A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629522



Internal ID6669661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52604253..52618660hg38UCSC Ensembl
Innerchr12:52604253..52618660hg38UCSC Ensembl
Outerchr12:52604179..52618733hg38UCSC Ensembl
chr12:52998037..53012444hg19UCSC Ensembl
Innerchr12:52998037..53012444hg19UCSC Ensembl
Outerchr12:52997963..53012517hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3814408
hg1914408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14483120, essv14483121, essv14483122
SamplesHG02728, HG04219, HG03931
Known GenesKRT73
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629522
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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