A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12653405



Internal ID2580569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170408433..170446084hg38UCSC Ensembl
Innerchr6:170408933..170445584hg38UCSC Ensembl
Outerchr6:170407433..170447084hg38UCSC Ensembl
chr6:170717521..170755172hg19UCSC Ensembl
Innerchr6:170718021..170754672hg19UCSC Ensembl
Outerchr6:170716521..170756172hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3837652
hg1937652
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611736
Supporting Variants
SamplesHG02284
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12653405
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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