A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617254



Internal ID7004140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54375682..54379742hg38UCSC Ensembl
Innerchr8:54375686..54379738hg38UCSC Ensembl
Outerchr8:54375678..54379746hg38UCSC Ensembl
chr8:55288242..55292302hg19UCSC Ensembl
Innerchr8:55288246..55292298hg19UCSC Ensembl
Outerchr8:55288238..55292306hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg384061
hg194061
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13203527, essv13203526, essv13203525, essv13203529, essv13203524, essv13203528, essv13203523
SamplesHG03300, HG02981, HG02588, HG03363, HG03061, HG02586, NA19117
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617254
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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