A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9896485



Internal ID3561078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:33183902..33187260hg38UCSC Ensembl
Innerchr1:33183926..33187236hg38UCSC Ensembl
Outerchr1:33183878..33187284hg38UCSC Ensembl
chr1:33649503..33652861hg19UCSC Ensembl
Innerchr1:33649527..33652837hg19UCSC Ensembl
Outerchr1:33649479..33652885hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg383359
hg193359
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585682
Supporting Variants
SamplesHG03139
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9896485
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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