A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14570878



Internal ID6102173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93356379..93357851hg38UCSC Ensembl
Innerchr12:93356429..93357801hg38UCSC Ensembl
Outerchr12:93356315..93357915hg38UCSC Ensembl
chr12:93750155..93751627hg19UCSC Ensembl
Innerchr12:93750205..93751577hg19UCSC Ensembl
Outerchr12:93750091..93751691hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381473
hg191473
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630395
Supporting Variants
SamplesNA19475
Known GenesLOC643339
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14570878
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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