A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2760788

Internal ID10028150
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2122991..2161125hg38UCSC Ensembl
Innerchr12:2232157..2270291hg19UCSC Ensembl
Innerchr12:2102418..2140552hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6996480, essv6996485, essv6996504, essv6996488, essv6996495, essv6996494, essv6996496, essv6996539, essv6996482, essv6996530, essv6996533, essv6996542, essv6996528, essv6996546, essv6996487, essv6996481, essv6996525, essv6996521, essv6996501, essv6996507, essv6996541, essv6996551, essv6996538, essv6996535, essv6996513, essv6996490, essv6996529, essv6996524, essv6996483, essv6996514, essv6996531, essv6996550, essv6996508, essv6996491, essv6996492, essv6996547, essv6996505, essv6996486, essv6996484, essv6996518, essv6996516, essv6996506, essv6996526, essv6996503, essv6996553, essv6996512, essv6996549, essv6996499, essv6996548, essv6996543, essv6996540, essv6996552, essv6996509, essv6996502, essv6996554, essv6996497, essv6996537, essv6996519, essv6996498, essv6996520, essv6996515, essv6996536, essv6996527, essv6996532, essv6996544, essv6996493, essv6996510, essv6996517
SamplesSW_1484, SW_1244, SW_1149, SW_1055, SW_0046, SW_0239, SW_1409, SW_1195, SW_1190, SW_1128, SW_0628, SW_0802, SW_1463, SW_0211, SW_1430, SW_1408, SW_0590, SW_1013, SW_1250, SW_1172, SW_0651, SW_0268, SW_1163, SW_0063, SW_0376, SW_1340, SW_0312, SW_1259, SW_1438, SW_0715, SW_0663, SW_1413, SW_1295, SW_1029, SW_1031, SW_1397, SW_1510, SW_0841, SW_1139, SW_1427, SW_0873, SW_1157, SW_0691, SW_1119, SW_1511, SW_1357, SW_0822, SW_1012, SW_1278, SW_1222, SW_0169, SW_1245, SW_1008, SW_1435, SW_1206, SW_1275, SW_1116, SW_0076, SW_1060, SW_0254, SW_0578, SW_1203, SW_1455, SW_0200, SW_1066, SW_1517, SW_1261, SW_1132
Known GenesCACNA1C
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.
Pubmed ID21179565
Accession Number(s)esv2760788
Sample Size1109
Observed Gain0
Observed Loss68
Observed Complex0

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