A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14486708



Internal ID5891326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56394949..56399210hg38UCSC Ensembl
Innerchr12:56394949..56399210hg38UCSC Ensembl
Outerchr12:56394449..56399710hg38UCSC Ensembl
chr12:56788733..56792994hg19UCSC Ensembl
Innerchr12:56788733..56792994hg19UCSC Ensembl
Outerchr12:56788233..56793494hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg384262
hg194262
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629597
Supporting Variants
SamplesNA19314
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14486708
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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