A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668094



Internal ID9587513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31826624..31827640hg38UCSC Ensembl
chr5:31826731..31827747hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381017
hg191017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6576353, essv6454458, essv5739589, essv5750931, essv5760491, essv5827422, essv5528967, essv5887890, essv5597369, essv6075390, essv6059909, essv5539150, essv6568273, essv6380801, essv5931258, essv6595951, essv6531525, essv5512352, essv5971228, essv5428854, essv6532378, essv5750422, essv5860988, essv6348163, essv5468943, essv5972683
SamplesHG00734, HG01519, NA19081, NA19819, NA19401, HG00736, NA19223, NA19331, HG01134, HG00115, HG00154, NA18559, NA18960, HG00264, HG01497, NA19909, NA19391, HG00138, NA19434, NA12003, NA19770, NA19749, NA19399, HG01374, NA19381, HG00278
Known GenesPDZD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668094
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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