A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670496



Internal ID9589915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43636764..43636970hg38UCSC Ensembl
Outerchr19:43636393..43637340hg38UCSC Ensembl
Innerchr19:44140916..44141122hg19UCSC Ensembl
Outerchr19:44140545..44141492hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38948
hg19948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5631906, essv6570275, essv5557083, essv5675004, essv6293312, essv5498044, essv5396775, essv5494659, essv6211211, essv5623797, essv5892526, essv5621554, essv5828606, essv6265099, essv6111685, essv6331690, essv6447239, essv6527700, essv5446856, essv5527650, essv5448215, essv6454026, essv5952495, essv5994926, essv5862920, essv5737375, essv5806146, essv5829671, essv6463973, essv5922871, essv5777933, essv5949935, essv5787920, essv5991641, essv6062328, essv5797300, essv5978026, essv6486606, essv5576416, essv5515662, essv6248192, essv5791010, essv6440812, essv5590700, essv5438134, essv6291420, essv6166632, essv5451727, essv5837190, essv6007845, essv6269374, essv6373844, essv5577162, essv5564359, essv5765110, essv6296090, essv6088543, essv5640882, essv6183344, essv6318795, essv6391940
SamplesHG00114, HG00143, HG00231, HG00249, HG00242, HG00100, HG00257, HG00151, HG00244, HG00115, HG00150, HG00261, HG00138, HG00127, HG00251, HG00122, HG00247, HG00243, HG00158, HG00139, HG00148, HG00106, HG00236, HG00156, HG00262, HG00232, HG00160, HG00118, HG00159, HG00253, HG00264, HG00108, HG00260, HG00137, HG00133, HG00154, HG00149, HG00263, HG00239, HG00117, HG00157, HG00140, HG01334, HG00146, HG00141, HG00246, HG00258, HG00124, HG00155, HG00254, HG00119, HG00265, HG00136, HG00237, HG00256, HG00125, HG00111, HG00259, HG00123, HG00131, HG00252
Known GenesCADM4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670496
Frequency
Sample Size1151
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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