A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607947



Internal ID6994878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4492896..4518310hg38UCSC Ensembl
Innerchr6:4493046..4518160hg38UCSC Ensembl
Outerchr6:4492746..4518460hg38UCSC Ensembl
chr6:4493130..4518544hg19UCSC Ensembl
Innerchr6:4493280..4518394hg19UCSC Ensembl
Outerchr6:4492980..4518694hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg3825415
hg1925415
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1164e214
Supporting Variantsessv12179504, essv12179503
SamplesNA19917, HG01808
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607947
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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