A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14593884



Internal ID2752747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103445325..103453267hg38UCSC Ensembl
Innerchr12:103445339..103453253hg38UCSC Ensembl
Outerchr12:103445311..103453281hg38UCSC Ensembl
chr12:103839103..103847045hg19UCSC Ensembl
Innerchr12:103839117..103847031hg19UCSC Ensembl
Outerchr12:103839089..103847059hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg387943
hg197943
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630613
Supporting Variants
SamplesHG02420
Known GenesC12orf42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14593884
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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