A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14540163



Internal ID6183363
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630032
Supporting Variants
SamplesNA19717
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14540163
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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