A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9883245



Internal ID6319895
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585429
Supporting Variants
SamplesNA19917
Known GenesKIF17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9883245
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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