A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674527



Internal ID9940632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:8093481..8093955hg38UCSC Ensembl
Outerchr17:8093430..8094008hg38UCSC Ensembl
Innerchr17:7996799..7997273hg19UCSC Ensembl
Outerchr17:7996748..7997326hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38579
hg19579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv532e199
Supporting Variantsessv5850761, essv6172101, essv6387024, essv5641268, essv6591549, essv5622919, essv5560415, essv6463201, essv5489777, essv5989753, essv6405204, essv5454864, essv5446588, essv5754922, essv6508938, essv5727588, essv5419087, essv6507667, essv5464838, essv5881329, essv5687288, essv5419655
SamplesNA18502, HG01389, NA19374, NA19448, NA19916, NA19313, NA19172, NA19471, NA19445, NA19462, NA18516, NA19114, NA18853, NA19318, NA19375, NA19434, NA19331, NA19428, NA19376, NA20334, NA19312, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674527
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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