A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629732



Internal ID6669871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62297395..62299197hg38UCSC Ensembl
Innerchr12:62297398..62299195hg38UCSC Ensembl
Outerchr12:62297393..62299200hg38UCSC Ensembl
chr12:62691176..62692978hg19UCSC Ensembl
Innerchr12:62691179..62692976hg19UCSC Ensembl
Outerchr12:62691174..62692981hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381803
hg191803
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14509842, essv14509840, essv14509841
SamplesHG03899, HG03692, HG04003
Known GenesUSP15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629732
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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