A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12191445



Internal ID2193261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13460936..13471362hg38UCSC Ensembl
Innerchr6:13460959..13471340hg38UCSC Ensembl
Outerchr6:13460914..13471385hg38UCSC Ensembl
chr6:13461168..13471594hg19UCSC Ensembl
Innerchr6:13461191..13471572hg19UCSC Ensembl
Outerchr6:13461146..13471617hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg3810427
hg1910427
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608126
Supporting Variants
SamplesNA19375
Known GenesGFOD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12191445
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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