A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14568898



Internal ID5860460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92251898..92256712hg38UCSC Ensembl
Innerchr12:92251898..92256712hg38UCSC Ensembl
Outerchr12:92251398..92257212hg38UCSC Ensembl
chr12:92645674..92650488hg19UCSC Ensembl
Innerchr12:92645674..92650488hg19UCSC Ensembl
Outerchr12:92645174..92650988hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg384815
hg194815
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630378
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14568898
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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