A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618244



Internal ID7005127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103080167..103081514hg38UCSC Ensembl
Innerchr8:103080180..103081502hg38UCSC Ensembl
Outerchr8:103080155..103081527hg38UCSC Ensembl
chr8:104092395..104093742hg19UCSC Ensembl
Innerchr8:104092408..104093730hg19UCSC Ensembl
Outerchr8:104092383..104093755hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381348
hg191348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13271401, essv13271407, essv13271408, essv13271404, essv13271402, essv13271410, essv13271398, essv13271417, essv13271411, essv13271413, essv13271412, essv13271409, essv13271405, essv13271418, essv13271399, essv13271400, essv13271403, essv13271414, essv13271416, essv13271406, essv13271415
SamplesHG02386, NA21092, NA21115, HG03235, HG03706, HG00311, HG02786, HG03884, HG03697, HG03714, NA21098, HG03805, HG04235, HG03951, HG01593, HG02660, HG04025, HG03642, HG03916, HG00186, HG04171
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618244
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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