A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12419413



Internal ID5661236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73270452..73272693hg38UCSC Ensembl
Innerchr6:73270468..73272678hg38UCSC Ensembl
Outerchr6:73270437..73272709hg38UCSC Ensembl
chr6:73980175..73982416hg19UCSC Ensembl
Innerchr6:73980191..73982401hg19UCSC Ensembl
Outerchr6:73980160..73982432hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg382242
hg192242
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609502
Supporting Variants
SamplesNA19072
Known GenesKHDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12419413
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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