A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10846411



Internal ID6751272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216531459..216549454hg38UCSC Ensembl
Innerchr2:216531609..216549304hg38UCSC Ensembl
Outerchr2:216531309..216549604hg38UCSC Ensembl
chr2:217396182..217414177hg19UCSC Ensembl
Innerchr2:217396332..217414027hg19UCSC Ensembl
Outerchr2:217396032..217414327hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3817996
hg1917996
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594294
Supporting Variants
SamplesNA20866
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10846411
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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