A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10481836



Internal ID5199365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43806202..43807753hg38UCSC Ensembl
Innerchr2:43806247..43807709hg38UCSC Ensembl
Outerchr2:43806158..43807798hg38UCSC Ensembl
chr2:44033341..44034892hg19UCSC Ensembl
Innerchr2:44033386..44034848hg19UCSC Ensembl
Outerchr2:44033297..44034937hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381552
hg191552
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590537
Supporting Variants
SamplesNA18614
Known GenesDYNC2LI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10481836
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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