A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14374093



Internal ID1313812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10194688..10196071hg38UCSC Ensembl
Innerchr12:10194725..10196034hg38UCSC Ensembl
Outerchr12:10194651..10196108hg38UCSC Ensembl
chr12:10347287..10348670hg19UCSC Ensembl
Innerchr12:10347324..10348633hg19UCSC Ensembl
Outerchr12:10347250..10348707hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381384
hg191384
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628530
Supporting Variants
SamplesHG01161
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14374093
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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