A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14618502



Internal ID3849015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120423563..120430406hg38UCSC Ensembl
Innerchr12:120424063..120429906hg38UCSC Ensembl
Outerchr12:120422563..120431406hg38UCSC Ensembl
chr12:120861366..120868209hg19UCSC Ensembl
Innerchr12:120861866..120867709hg19UCSC Ensembl
Outerchr12:120860366..120869209hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386844
hg196844
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630922
Supporting Variants
SamplesHG03479
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14618502
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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