A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630032



Internal ID7016852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76645664..76646026hg38UCSC Ensembl
Innerchr12:76645680..76646010hg38UCSC Ensembl
Outerchr12:76645648..76646042hg38UCSC Ensembl
chr12:77039444..77039806hg19UCSC Ensembl
Innerchr12:77039460..77039790hg19UCSC Ensembl
Outerchr12:77039428..77039822hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14540163
SamplesNA19717
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630032
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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