A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12341411



Internal ID3881978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46925897..46930598hg38UCSC Ensembl
Innerchr6:46925922..46930573hg38UCSC Ensembl
Outerchr6:46925872..46930623hg38UCSC Ensembl
chr6:46893634..46898335hg19UCSC Ensembl
Innerchr6:46893659..46898310hg19UCSC Ensembl
Outerchr6:46893609..46898360hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg384702
hg194702
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608888
Supporting Variants
SamplesHG03521
Known GenesGPR116
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12341411
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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