A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629909



Internal ID7016730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71173406..71181031hg38UCSC Ensembl
Innerchr12:71173424..71181014hg38UCSC Ensembl
Outerchr12:71173389..71181049hg38UCSC Ensembl
chr12:71567186..71574811hg19UCSC Ensembl
Innerchr12:71567204..71574794hg19UCSC Ensembl
Outerchr12:71567169..71574829hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg387626
hg197626
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14526102, essv14526103
SamplesHG01242, HG01082
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629909
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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