A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609426



Internal ID6649656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:69882090..69883489hg38UCSC Ensembl
Innerchr6:69882090..69883489hg38UCSC Ensembl
Outerchr6:69881898..69883745hg38UCSC Ensembl
chr6:70591982..70593381hg19UCSC Ensembl
Innerchr6:70591982..70593381hg19UCSC Ensembl
Outerchr6:70591790..70593637hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12410960
SamplesNA18616
Known GenesCOL19A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609426
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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