A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590537



Internal ID6977866
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10481836
SamplesNA18614
Known GenesDYNC2LI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590537
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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