A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617493



Internal ID7004378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66937610..66942580hg38UCSC Ensembl
Innerchr8:66937660..66942530hg38UCSC Ensembl
Outerchr8:66937560..66942630hg38UCSC Ensembl
chr8:67849845..67854815hg19UCSC Ensembl
Innerchr8:67849895..67854765hg19UCSC Ensembl
Outerchr8:67849795..67854865hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg384971
hg194971
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13215963, essv13215967, essv13215966, essv13215964, essv13215965
SamplesHG02433, HG02505, NA19175, NA19236, HG02053
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617493
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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