A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586233



Internal ID6626546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62299688..62305115hg38UCSC Ensembl
Innerchr1:62299688..62305115hg38UCSC Ensembl
Outerchr1:62299542..62305294hg38UCSC Ensembl
chr1:62765360..62770786hg19UCSC Ensembl
Innerchr1:62765360..62770786hg19UCSC Ensembl
Outerchr1:62765214..62770965hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg385428
hg195427
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9950235, essv9950229, essv9950233, essv9950236, essv9950237, essv9950230, essv9950234, essv9950231, essv9950232
SamplesHG00187, HG00306, NA12751, HG00138, HG00332, NA20126, HG00117, HG01678, NA07000
Known GenesKANK4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586233
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer