A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9896484



Internal ID6521777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:33148849..33150994hg38UCSC Ensembl
Innerchr1:33148849..33150994hg38UCSC Ensembl
Outerchr1:33148667..33151259hg38UCSC Ensembl
chr1:33614450..33616595hg19UCSC Ensembl
Innerchr1:33614450..33616595hg19UCSC Ensembl
Outerchr1:33614268..33616860hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg382146
hg192146
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585681
Supporting Variants
SamplesHG03258
Known GenesTRIM62
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9896484
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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