A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14590097



Internal ID6943490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101456168..101458508hg38UCSC Ensembl
Innerchr12:101456183..101458493hg38UCSC Ensembl
Outerchr12:101456153..101458523hg38UCSC Ensembl
chr12:101849946..101852286hg19UCSC Ensembl
Innerchr12:101849961..101852271hg19UCSC Ensembl
Outerchr12:101849931..101852301hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg382341
hg192341
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630572
Supporting Variants
SamplesNA21127
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14590097
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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