A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12178838



Internal ID5773170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3159241..3179129hg38UCSC Ensembl
Innerchr6:3159391..3178979hg38UCSC Ensembl
Outerchr6:3159091..3179279hg38UCSC Ensembl
chr6:3159475..3179363hg19UCSC Ensembl
Innerchr6:3159625..3179213hg19UCSC Ensembl
Outerchr6:3159325..3179513hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3819889
hg1919889
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607923
Supporting Variants
SamplesNA19143
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12178838
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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