A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645939



Internal ID7032685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45719986..45751040hg38UCSC Ensembl
Innerchr20:45720486..45750540hg38UCSC Ensembl
Outerchr20:45718986..45752040hg38UCSC Ensembl
chr20:44348625..44379679hg19UCSC Ensembl
Innerchr20:44349125..44379179hg19UCSC Ensembl
Outerchr20:44347625..44380679hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3831055
hg1931055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16196478, essv16196482, essv16196479, essv16196484, essv16196481, essv16196476, essv16196480, essv16196483, essv16196477
SamplesHG00261, HG00251, NA12275, HG02332, HG00376, HG00119, HG00136, HG00329, NA20511
Known GenesSPINT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645939
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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