A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594295



Internal ID6981615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216550068..216552738hg38UCSC Ensembl
Innerchr2:216550068..216552738hg38UCSC Ensembl
Outerchr2:216549821..216552974hg38UCSC Ensembl
chr2:217414791..217417461hg19UCSC Ensembl
Innerchr2:217414791..217417461hg19UCSC Ensembl
Outerchr2:217414544..217417697hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382671
hg192671
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10846412
SamplesHG01673
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594295
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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