A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760077



Internal ID10376385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:34622883..34648667hg38UCSC Ensembl
Innerchr1:35088484..35114268hg19UCSC Ensembl
Innerchr1:34861071..34886855hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3825785
hg1925785
hg1825785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027313, essv7025522, essv7026966, essv7025411, essv7027579, essv7027135, essv7027068, essv7026411, essv7027213, essv7024522, essv7027535, essv7027501, essv7026855, essv7027224, essv7027601, essv7027635, essv7027324, essv7026188, essv7027379, essv7025300, essv7027235, essv7027157, essv7027590, essv7027368, essv7027401, essv7027057, essv7026077, essv7027335, essv7027179, essv7027113, essv7025189, essv7027346, essv7027512, essv7027246, essv7027457, essv7024078, essv7027479, essv7023743, essv7027168, essv7023632, essv7027623, essv7027435, essv7027302, essv7027290, essv7023854, essv7027446, essv7024855, essv7027468, essv7027413, essv7027202, essv7027124, essv7027390, essv7027080, essv7027146, essv7027191, essv7025633, essv7027557, essv7024633, essv7027046, essv7027657, essv7026522, essv7026744, essv7027524, essv7026300, essv7024966, essv7023965, essv7027490, essv7027612, essv7027091, essv7024189, essv7027257, essv7027279, essv7027646, essv7025966, essv7025855, essv7025077, essv7027268, essv7027102, essv7027546, essv7024744, essv7027568, essv7026633, essv7025744, essv7027424, essv7027357, essv7024300, essv7024411
SamplesSW_1125, SW_0841, SW_1539, SW_0145, SW_1439, SW_0505, SW_0835, SW_0635, SW_1433, SW_1111, SW_0623, SW_0889, SW_1168, SW_0063, SW_0607, SW_1150, SW_1051, SW_0578, SW_0046, SW_1232, SW_1294, SW_0045, SW_0875, SW_0640, SW_0029, SW_0173, SW_1023, SW_0581, SW_0818, SW_1570, SW_0869, SW_0141, SW_1126, SW_0226, SW_0605, SW_1408, SW_1189, SW_1127, SW_0216, SW_1569, SW_0073, SW_1395, SW_1043, SW_0665, SW_1131, SW_1270, SW_0859, SW_0628, SW_1122, SW_1198, SW_1079, SW_0076, SW_0641, SW_0701, SW_1194, SW_1483, SW_0621, SW_1113, SW_0663, SW_0576, SW_0120, SW_1440, SW_1089, SW_1176, SW_1101, SW_1112, SW_0829, SW_0061, SW_1380, SW_0006, SW_1517, SW_0883, SW_1520, SW_1045, SW_0198, SW_0820, SW_1180, SW_0170, SW_0586, SW_0009, SW_1317, SW_1273, SW_1119, SW_0197, SW_1511, SW_0225, SW_0239
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)esv2760077
Frequency
Sample Size1109
Observed Gain0
Observed Loss87
Observed Complex0
Frequencyn/a


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