A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9958935



Internal ID1721342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67529755..67531131hg38UCSC Ensembl
Innerchr1:67529818..67531069hg38UCSC Ensembl
Outerchr1:67529693..67531194hg38UCSC Ensembl
chr1:67995438..67996814hg19UCSC Ensembl
Innerchr1:67995501..67996752hg19UCSC Ensembl
Outerchr1:67995376..67996877hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381377
hg191377
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586308
Supporting Variants
SamplesHG01599
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9958935
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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