A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763938



Internal ID10031288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:76707753..76751356hg38UCSC Ensembl
Innerchr6:77417470..77461073hg19UCSC Ensembl
Innerchr6:77474189..77517792hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3843604
hg1943604
hg1843604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032536, essv7032522, essv7032517, essv7032616, essv7032587, essv7032528, essv7032487, essv7032520, essv7032507, essv7032578, essv7032541, essv7032492, essv7032543, essv7032598, essv7032621, essv7032465, essv7032610, essv7032534, essv7032550, essv7032474, essv7032569, essv7032491, essv7032518, essv7032500, essv7032481, essv7032571, essv7032511, essv7032515, essv7032591, essv7032485, essv7032456, essv7032467, essv7032459, essv7032472, essv7032461, essv7032588, essv7032462, essv7032451, essv7032613, essv7032625, essv7032581, essv7032477, essv7032529, essv7032572, essv7032484, essv7032453, essv7032615, essv7032475, essv7032553, essv7032558, essv7032584, essv7032493, essv7032602, essv7032595, essv7032454, essv7032583, essv7032547, essv7032603, essv7032495, essv7032533, essv7032503, essv7032611, essv7032537, essv7032452, essv7032555, essv7032482, essv7032582, essv7032559, essv7032592, essv7032575, essv7032580, essv7032458, essv7032530, essv7032562, essv7032544, essv7032532, essv7032609, essv7032450, essv7032494, essv7032552, essv7032567, essv7032617, essv7032483, essv7032509, essv7032527, essv7032488, essv7032556, essv7032560, essv7032607, essv7032608, essv7032514, essv7032504, essv7032586, essv7032502, essv7032563, essv7032521, essv7032594, essv7032470, essv7032605, essv7032531, essv7032464, essv7032585, essv7032545, essv7032513, essv7032455, essv7032508, essv7032574, essv7032542, essv7032600, essv7032478, essv7032496, essv7032538, essv7032597, essv7032604, essv7032570, essv7032510, essv7032466, essv7032599, essv7032519, essv7032526, essv7032498, essv7032497, essv7032476, essv7032577, essv7032554, essv7032486, essv7032525, essv7032505, essv7032539, essv7032469, essv7032540, essv7032619, essv7032614, essv7032549, essv7032473, essv7032548, essv7032460, essv7032576, essv7032564, essv7032506, essv7032489, essv7032624, essv7032593, essv7032480, essv7032463, essv7032573, essv7032565, essv7032561, essv7032551, essv7032516, essv7032589, essv7032618, essv7032622, essv7032620, essv7032471, essv7032596, essv7032499, essv7032606, essv7032566
SamplesSW_1451, SW_1242, SW_0841, SW_0831, SW_0370, SW_0636, SW_0171, SW_1210, SW_1283, SW_0145, SW_1439, SW_1064, SW_0240, SW_0873, SW_0635, SW_0885, SW_1166, SW_0158, SW_1199, SW_1535, SW_0072, SW_1080, SW_0102, SW_0607, SW_1051, SW_1246, SW_1460, SW_1396, SW_1409, SW_1105, SW_1314, SW_0046, SW_1272, SW_1195, SW_1174, SW_1397, SW_0580, SW_1294, SW_1078, SW_0874, SW_0890, SW_1031, SW_1379, SW_0020, SW_1023, SW_0609, SW_0589, SW_0891, SW_0032, SW_0888, SW_0759, SW_0604, SW_1431, SW_0311, SW_1221, SW_1258, SW_1109, SW_1413, SW_1057, SW_1391, SW_0060, SW_1309, SW_0376, SW_1419, SW_0062, SW_1466, SW_1153, SW_1470, SW_1243, SW_0214, SW_0077, SW_1404, SW_1355, SW_1408, SW_0216, SW_1523, SW_0073, SW_1446, SW_0296, SW_1504, SW_0757, SW_0538, SW_1172, SW_0661, SW_0008, SW_1095, SW_0859, SW_0787, SW_0058, SW_1323, SW_1465, SW_1148, SW_0002, SW_1198, SW_1162, SW_1079, SW_0703, SW_1179, SW_1423, SW_1103, SW_1428, SW_1335, SW_1295, SW_0577, SW_1471, SW_1113, SW_0659, SW_1440, SW_1415, SW_1060, SW_1193, SW_0775, SW_0618, SW_0594, SW_0007, SW_0118, SW_1374, SW_1378, SW_1332, SW_1112, SW_0814, SW_0061, SW_1071, SW_1004, SW_0004, SW_0833, SW_1067, SW_0592, SW_1422, SW_0113, SW_0651, SW_0340, SW_0018, SW_1373, SW_0632, SW_1240, SW_1045, SW_1416, SW_0198, SW_1077, SW_0155, SW_0822, SW_0586, SW_1215, SW_0674, SW_0256, SW_1509, SW_1229, SW_0159, SW_1392, SW_0690, SW_0148, SW_1381, SW_0624, SW_1208, SW_1026, SW_0090, SW_1430, SW_1281
Known Genes
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2763938
Frequency
Sample Size1109
Observed Gain0
Observed Loss159
Observed Complex0
Frequencyn/a


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