A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668851



Internal ID9934956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77221123..77221929hg38UCSC Ensembl
Outerchr14:77220752..77222299hg38UCSC Ensembl
Innerchr14:77687466..77688272hg19UCSC Ensembl
Outerchr14:77687095..77688642hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381548
hg191548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv404e199
Supporting Variantsessv5614089, essv5437588, essv6394706, essv5475528, essv5523974, essv5666150, essv5505201, essv6455555, essv6305419, essv6212061, essv6164875, essv5957364, essv5944680, essv5453273, essv6363594, essv6001481, essv6582610, essv6353982, essv5442191, essv6049746, essv6454284, essv6121936, essv5981713, essv6426213, essv5545508, essv5980744, essv5944780, essv6339442, essv6073341, essv5781002, essv6521896, essv6259175, essv6321318, essv6548184, essv6539150, essv6148941, essv6002919, essv5913885, essv6355891, essv6462876, essv6316638, essv6299990, essv6366095, essv6108755, essv6406326, essv5551646, essv6498722, essv6231305, essv5507769, essv6595828, essv6065517, essv6487481, essv5960215, essv6094584, essv6492394, essv6073955, essv6227316, essv5789774, essv5916050
SamplesHG00361, HG00187, HG00315, HG00367, HG00318, HG00181, HG00177, HG00337, HG00327, HG00271, HG00173, HG00330, HG00346, HG00334, HG00281, HG00277, HG00335, HG00325, HG00309, HG00338, HG00326, HG00323, HG00313, HG00268, HG00266, HG00183, HG00176, HG00282, HG00328, HG00190, HG00320, HG00344, HG00275, HG00324, HG00284, HG00273, HG00373, HG00331, HG00321, HG00276, HG00336, HG00285, HG00353, HG00375, HG00278, HG00319, HG00339, HG00269, HG00329, HG00342, HG00267, HG00174, HG00310, HG00186, HG00280, HG00343, HG00274, HG00345, HG00180
Known GenesTMEM63C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668851
Frequency
Sample Size1151
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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