A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671962



Internal ID9938067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:133799025..133800931hg38UCSC Ensembl
Outerchr5:133798654..133801301hg38UCSC Ensembl
Innerchr5:133134716..133136622hg19UCSC Ensembl
Outerchr5:133134345..133136992hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382648
hg192648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1040e199
Supporting Variantsessv5631862, essv6356632, essv6136549, essv6256450, essv5470686, essv6057875, essv6087205, essv6566128, essv5935471, essv6369370, essv5660776, essv6279180, essv6089475, essv5870068, essv5737576, essv6388477, essv5559719, essv6146256, essv5640816, essv5730799, essv5933111, essv5671026, essv5680325, essv5629963, essv6228352, essv5663385, essv5709977, essv5737112, essv6110063, essv5666984, essv5813355, essv5616263, essv5511399, essv6290716, essv6111128, essv5760032, essv6273391, essv5769189
SamplesNA11830, NA12286, NA11829, NA10851, NA12273, NA12414, NA12045, NA12751, NA12004, NA12340, NA12058, NA12750, NA12399, NA12341, NA12813, NA07346, NA11992, NA11918, NA07347, NA12156, NA12828, NA12748, NA11831, NA12342, NA12003, NA11919, NA11894, NA12249, NA12043, NA11881, NA12775, NA12272, NA12046, NA07037, NA12763, NA06986, NA06994, NA12006
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671962
Frequency
Sample Size1151
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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