A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2761877

Internal ID10029227
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:31674436..32584783hg38UCSC Ensembl
Innerchr15:31966639..32876984hg19UCSC Ensembl
Innerchr15:29753931..30664276hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6999884, essv6999909, essv6999885, essv6999877, essv6999898, essv6999902, essv6999917, essv6999893, essv6999896, essv6999886, essv6999903, essv6999895, essv6999907, essv6999904, essv6999875, essv6999913, essv6999876, essv6999910, essv6999899, essv6999897, essv6999912, essv6999882, essv6999892, essv6999890, essv6999880, essv6999883, essv6999887, essv6999879, essv6999873, essv6999891, essv6999881, essv6999905, essv6999901, essv6999916, essv6999908, essv6999874, essv6999894, essv6999918, essv6999915, essv6999888, essv6999914, essv6999906
SamplesSW_1334, SW_1165, SW_0804, SW_1055, SW_1539, SW_0568, SW_0160, SW_0628, SW_1543, SW_0650, SW_0197, SW_0636, SW_0144, SW_0651, SW_1166, SW_1375, SW_0379, SW_1259, SW_0759, SW_1373, SW_1527, SW_0047, SW_1031, SW_0846, SW_0583, SW_0592, SW_0538, SW_0883, SW_0691, SW_1119, SW_1254, SW_1433, SW_1343, SW_1345, SW_0190, SW_1080, SW_1273, SW_1137
Known GenesCHRNA7, GOLGA8K, GOLGA8O, LOC100996255, ULK4P1, ULK4P2, ULK4P3, WHAMMP1
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)esv2761877
Sample Size1109
Observed Gain14
Observed Loss24
Observed Complex0

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