A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617489



Internal ID7004374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66618357..66624550hg38UCSC Ensembl
Innerchr8:66618857..66624050hg38UCSC Ensembl
Outerchr8:66617357..66625550hg38UCSC Ensembl
chr8:67530592..67536785hg19UCSC Ensembl
Innerchr8:67531092..67536285hg19UCSC Ensembl
Outerchr8:67529592..67537785hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg386194
hg196194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13215947, essv13215939, essv13215943, essv13215945, essv13215941, essv13215937, essv13215944, essv13215936, essv13215942, essv13215940, essv13215938, essv13215946
SamplesHG03837, HG03937, HG03604, HG03780, HG03787, HG03756, HG03006, HG04176, HG03488, NA20847, HG03894, HG03989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617489
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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