A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645886



Internal ID6685947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43653014..43756886hg38UCSC Ensembl
Innerchr20:43653164..43756736hg38UCSC Ensembl
Outerchr20:43652864..43757036hg38UCSC Ensembl
chr20:42281654..42385526hg19UCSC Ensembl
Innerchr20:42281804..42385376hg19UCSC Ensembl
Outerchr20:42281504..42385676hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38103873
hg19103873
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16192718
SamplesNA18614
Known GenesGTSF1L, MYBL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645886
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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