A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14591168



Internal ID4592984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102017197..102017872hg38UCSC Ensembl
Innerchr12:102017200..102017869hg38UCSC Ensembl
Outerchr12:102017194..102017875hg38UCSC Ensembl
chr12:102410975..102411650hg19UCSC Ensembl
Innerchr12:102410978..102411647hg19UCSC Ensembl
Outerchr12:102410972..102411653hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38676
hg19676
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630585
Supporting Variants
SamplesNA19921
Known GenesCCDC53
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14591168
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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