A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14615475



Internal ID6075803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118009251..118010696hg38UCSC Ensembl
Innerchr12:118009398..118010585hg38UCSC Ensembl
Outerchr12:118008995..118010952hg38UCSC Ensembl
chr12:118447056..118448501hg19UCSC Ensembl
Innerchr12:118447203..118448390hg19UCSC Ensembl
Outerchr12:118446800..118448757hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381446
hg191446
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630880
Supporting Variants
SamplesNA19462
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14615475
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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