A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13093740



Internal ID3095556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8900075..8906494hg38UCSC Ensembl
Innerchr8:8900075..8906494hg38UCSC Ensembl
Outerchr8:8900049..8906627hg38UCSC Ensembl
chr8:8757585..8764004hg19UCSC Ensembl
Innerchr8:8757585..8764004hg19UCSC Ensembl
Outerchr8:8757559..8764137hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg386420
hg196420
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616156
Supporting Variants
SamplesNA21097
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13093740
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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