A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594142



Internal ID6981462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:209266720..209286673hg38UCSC Ensembl
Innerchr2:209266720..209286673hg38UCSC Ensembl
Outerchr2:209266220..209287173hg38UCSC Ensembl
chr2:210131444..210151397hg19UCSC Ensembl
Innerchr2:210131444..210151397hg19UCSC Ensembl
Outerchr2:210130944..210151897hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3819954
hg1919954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10834532, essv10834533, essv10834531
SamplesHG01048, HG03583, HG03077
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594142
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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