A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14543628



Internal ID2846069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:77705223..77706957hg38UCSC Ensembl
Innerchr12:77705224..77706956hg38UCSC Ensembl
Outerchr12:77705222..77706958hg38UCSC Ensembl
chr12:78099003..78100737hg19UCSC Ensembl
Innerchr12:78099004..78100736hg19UCSC Ensembl
Outerchr12:78099002..78100738hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381735
hg191735
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630048
Supporting Variants
SamplesHG02511
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14543628
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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