A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9883243



Internal ID6508536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20665593..20677570hg38UCSC Ensembl
Innerchr1:20665626..20677537hg38UCSC Ensembl
Outerchr1:20665560..20677603hg38UCSC Ensembl
chr1:20992086..21004063hg19UCSC Ensembl
Innerchr1:20992119..21004030hg19UCSC Ensembl
Outerchr1:20992053..21004096hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3811978
hg1911978
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585428
Supporting Variants
SamplesHG02464
Known GenesKIF17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9883243
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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