A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14519749



Internal ID1567017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67533510..67534369hg38UCSC Ensembl
Innerchr12:67533510..67534369hg38UCSC Ensembl
Outerchr12:67533172..67534761hg38UCSC Ensembl
chr12:67927290..67928149hg19UCSC Ensembl
Innerchr12:67927290..67928149hg19UCSC Ensembl
Outerchr12:67926952..67928541hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38860
hg19860
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629835
Supporting Variants
SamplesHG01447
Known GenesLOC100507175
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14519749
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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