A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13194971



Internal ID6174722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48952072..48967618hg38UCSC Ensembl
chr8:49864631..49880177hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3815547
hg1915547
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617130
Supporting Variants
SamplesNA19712
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13194971
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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