A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179135



Internal ID6412123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3501721..3507832hg38UCSC Ensembl
Innerchr6:3501721..3507832hg38UCSC Ensembl
Outerchr6:3501221..3508332hg38UCSC Ensembl
chr6:3501955..3508066hg19UCSC Ensembl
Innerchr6:3501955..3508066hg19UCSC Ensembl
Outerchr6:3501455..3508566hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg386112
hg196112
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607933
Supporting Variants
SamplesNA20357
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179135
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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