A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657675



Internal ID9923780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:46856428..46858191hg38UCSC Ensembl
chr8:47768050..47769813hg19UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg381764
hg191764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5635039, essv5710107, essv6037566, essv6149677, essv6408316, essv6354574, essv5543639, essv5763540, essv5544900, essv6053119, essv6379091, essv5415753, essv6323362, essv5666050, essv5561170, essv5447936, essv6107578, essv6097938, essv5865526, essv5729835, essv5991882, essv5905463
SamplesHG00189, HG00257, HG00151, HG00318, HG00177, NA12400, HG00271, HG01069, HG00160, HG01353, HG00273, NA19750, HG00141, HG00336, HG00375, HG00357, NA12272, HG00734, HG01137, HG00342, HG00267, HG01112
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657675
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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