A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646068



Internal ID7032813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51738132..51753770hg38UCSC Ensembl
Innerchr20:51738282..51753620hg38UCSC Ensembl
Outerchr20:51737982..51753920hg38UCSC Ensembl
chr20:50354671..50370309hg19UCSC Ensembl
Innerchr20:50354821..50370159hg19UCSC Ensembl
Outerchr20:50354521..50370459hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3815639
hg1915639
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16199693
SamplesHG01101
Known GenesATP9A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646068
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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