A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12526064



Internal ID518326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121640281..121649751hg38UCSC Ensembl
Innerchr6:121640288..121649745hg38UCSC Ensembl
Outerchr6:121640275..121649758hg38UCSC Ensembl
chr6:121961427..121970897hg19UCSC Ensembl
Innerchr6:121961434..121970891hg19UCSC Ensembl
Outerchr6:121961421..121970904hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg389471
hg199471
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610595
Supporting Variants
SamplesHG00186
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12526064
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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