A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608891



Internal ID6649124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47002623..47004523hg38UCSC Ensembl
Innerchr6:47002673..47004473hg38UCSC Ensembl
Outerchr6:47002573..47004573hg38UCSC Ensembl
chr6:46970360..46972260hg19UCSC Ensembl
Innerchr6:46970410..46972210hg19UCSC Ensembl
Outerchr6:46970310..46972310hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12341417, essv12341420, essv12341418, essv12341419
SamplesHG01795, HG03616, HG03793, HG01849
Known GenesGPR110
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608891
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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