A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645663



Internal ID7032412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32305238..32306954hg38UCSC Ensembl
Innerchr20:32305238..32306954hg38UCSC Ensembl
Outerchr20:32304866..32307275hg38UCSC Ensembl
chr20:30893041..30894757hg19UCSC Ensembl
Innerchr20:30893041..30894757hg19UCSC Ensembl
Outerchr20:30892669..30895078hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg381717
hg191717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16173735, essv16173740, essv16173737, essv16173742, essv16173741, essv16173733, essv16173738, essv16173734, essv16173736, essv16173739
SamplesNA18745, HG00674, HG02374, HG00629, NA18637, HG01870, HG02086, NA18643, HG00478, HG01600
Known GenesKIF3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645663
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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