A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179504



Internal ID6319261
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607947
Supporting Variants
SamplesNA19917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179504
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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