A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630162



Internal ID7016981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82636109..82644224hg38UCSC Ensembl
Innerchr12:82636110..82644223hg38UCSC Ensembl
Outerchr12:82636108..82644225hg38UCSC Ensembl
chr12:83029888..83038003hg19UCSC Ensembl
Innerchr12:83029889..83038002hg19UCSC Ensembl
Outerchr12:83029887..83038004hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg388116
hg198116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14551436
SamplesHG02968
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630162
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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