A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658570



Internal ID9924675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83038853..83038994hg38UCSC Ensembl
chr17:80996729..80996870hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5433979, essv6504694, essv5763420, essv5398262, essv6251278, essv6227411, essv5713048, essv6361236, essv6414220, essv5969822, essv5666181, essv5440991, essv6134913, essv5815124, essv6073631, essv5398456, essv6185334, essv6477172, essv6210342, essv5888952, essv6516991, essv6423602, essv5497835, essv6422229, essv6075766, essv5829719, essv5804889, essv5496722, essv6466565, essv6120186, essv5801737, essv5643483, essv6469222, essv6371256, essv6366825, essv6281797, essv6413058, essv6270023
SamplesNA19394, HG00442, HG00318, HG00654, NA18633, HG00261, HG00327, HG00501, HG00702, HG00689, HG00512, HG00277, HG01069, HG00335, HG00323, HG00108, HG00260, HG00268, HG00282, HG00328, NA19391, HG00436, HG00584, HG00500, HG00284, HG00321, HG00140, HG00246, NA18542, HG00237, HG00319, HG00418, HG00125, HG00698, HG00343, HG01082, NA18623, NA18612
Known GenesB3GNTL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658570
Frequency
Sample Size1151
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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