A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586193



Internal ID6626506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59843283..59853601hg38UCSC Ensembl
Innerchr1:59843290..59853594hg38UCSC Ensembl
Outerchr1:59843276..59853608hg38UCSC Ensembl
chr1:60308955..60319273hg19UCSC Ensembl
Innerchr1:60308962..60319266hg19UCSC Ensembl
Outerchr1:60308948..60319280hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3810319
hg1910319
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9945415, essv9945416
SamplesNA21111, NA21089
Known GenesHOOK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586193
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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