A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585429



Internal ID6972953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20677367..20683265hg38UCSC Ensembl
Innerchr1:20677367..20683265hg38UCSC Ensembl
Outerchr1:20676867..20683765hg38UCSC Ensembl
chr1:21003860..21009758hg19UCSC Ensembl
Innerchr1:21003860..21009758hg19UCSC Ensembl
Outerchr1:21003360..21010258hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg385899
hg195899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9883246, essv9883245
SamplesNA19917, NA21106
Known GenesKIF17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585429
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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