A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657537



Internal ID9576956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140850981..140855337hg38UCSC Ensembl
Outerchr5:140850410..140855957hg38UCSC Ensembl
Innerchr5:140230566..140234922hg19UCSC Ensembl
Outerchr5:140229995..140235542hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385548
hg195548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6459669, essv5400631, essv5788238, essv5803408, essv6211030, essv6040942, essv5991047, essv5443196, essv5957512, essv5809129, essv5518212, essv6026530, essv5703308, essv6420514, essv6330143, essv5841055, essv6009859, essv6572374, essv6341395, essv5551847, essv5503246, essv6520887, essv5436719, essv6476891, essv5826649, essv5940741, essv5762665, essv5497734, essv5520027, essv5556233, essv5545697, essv6235362, essv6061534, essv6217265, essv5767624, essv5946682, essv6140031, essv6440133, essv5987516, essv6214826
SamplesNA12827, NA12489, NA19445, NA07037, NA07056, NA12347, NA19469, NA19455, NA19319, NA19359, NA19453, NA12776, NA12341, NA12287, NA19467, NA19463, NA11919, NA12282, NA19443, NA19471, NA19444, NA19396, NA12829, NA11894, NA12716, NA19393, NA12778, NA12275, NA19328, NA19318, NA11832, NA10851, NA12749, NA19394, NA19327, NA19470, NA19315, NA19381, NA19468, NA19466
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657537
Frequency
Sample Size1151
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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