A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630924



Internal ID6671057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120458358..120459164hg38UCSC Ensembl
Innerchr12:120458508..120459014hg38UCSC Ensembl
Outerchr12:120458208..120459314hg38UCSC Ensembl
chr12:120896161..120896967hg19UCSC Ensembl
Innerchr12:120896311..120896817hg19UCSC Ensembl
Outerchr12:120896011..120897117hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38807
hg19807
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14618507
SamplesNA18534
Known GenesGATC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630924
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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