A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14483801



Internal ID4485617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53157539..53158379hg38UCSC Ensembl
Innerchr12:53157539..53158379hg38UCSC Ensembl
Outerchr12:53157243..53158629hg38UCSC Ensembl
chr12:53551323..53552163hg19UCSC Ensembl
Innerchr12:53551323..53552163hg19UCSC Ensembl
Outerchr12:53551027..53552413hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629539
Supporting Variants
SamplesHG02013
Known GenesCSAD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14483801
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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