A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645906



Internal ID6685967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44266079..44338614hg38UCSC Ensembl
Innerchr20:44266229..44338464hg38UCSC Ensembl
Outerchr20:44265929..44338764hg38UCSC Ensembl
chr20:42894719..42967254hg19UCSC Ensembl
Innerchr20:42894869..42967104hg19UCSC Ensembl
Outerchr20:42894569..42967404hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3872536
hg1972536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16193799
SamplesHG01108
Known GenesFITM2, GDAP1L1, R3HDML
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645906
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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