A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12574686



Internal ID2576502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143089850..143151361hg38UCSC Ensembl
Innerchr6:143089872..143151340hg38UCSC Ensembl
Outerchr6:143089829..143151383hg38UCSC Ensembl
chr6:143410987..143472498hg19UCSC Ensembl
Innerchr6:143411009..143472477hg19UCSC Ensembl
Outerchr6:143410966..143472520hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg3861512
hg1961512
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611090
Supporting Variants
SamplesHG03685
Known GenesAIG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12574686
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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