A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14522122



Internal ID4523938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70223601..70224989hg38UCSC Ensembl
Innerchr12:70223651..70224939hg38UCSC Ensembl
Outerchr12:70223495..70225095hg38UCSC Ensembl
chr12:70617381..70618769hg19UCSC Ensembl
Innerchr12:70617431..70618719hg19UCSC Ensembl
Outerchr12:70617275..70618875hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381389
hg191389
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629883
Supporting Variants
SamplesNA19024
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14522122
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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