A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14618473



Internal ID1918182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119864032..119872870hg38UCSC Ensembl
Innerchr12:119864032..119872870hg38UCSC Ensembl
Outerchr12:119863532..119873370hg38UCSC Ensembl
chr12:120301836..120310674hg19UCSC Ensembl
Innerchr12:120301836..120310674hg19UCSC Ensembl
Outerchr12:120301336..120311174hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg388839
hg198839
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630914
Supporting Variants
SamplesHG01795
Known GenesCIT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14618473
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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