A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645552



Internal ID6685614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:24494271..25093181hg38UCSC Ensembl
Innerchr20:24494421..25093031hg38UCSC Ensembl
Outerchr20:24494121..25093331hg38UCSC Ensembl
chr20:24474907..25073817hg19UCSC Ensembl
Innerchr20:24475057..25073667hg19UCSC Ensembl
Outerchr20:24474757..25073967hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38598911
hg19598911
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16163965, essv16163966
SamplesHG03539, NA19454
Known GenesACSS1, APMAP, CST7, SYNDIG1, VSX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645552
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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