A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10879787



Internal ID881603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234071082..234073167hg38UCSC Ensembl
Innerchr2:234071082..234073167hg38UCSC Ensembl
Outerchr2:234070872..234073356hg38UCSC Ensembl
chr2:234979726..234981811hg19UCSC Ensembl
Innerchr2:234979726..234981811hg19UCSC Ensembl
Outerchr2:234979516..234982000hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382086
hg192086
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594686
Supporting Variants
SamplesHG01855
Known GenesSPP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10879787
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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