A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593261



Internal ID6980585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166845105..166847336hg38UCSC Ensembl
Innerchr2:166845131..166847311hg38UCSC Ensembl
Outerchr2:166845080..166847362hg38UCSC Ensembl
chr2:167701615..167703846hg19UCSC Ensembl
Innerchr2:167701641..167703821hg19UCSC Ensembl
Outerchr2:167701590..167703872hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382232
hg192232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10750888
SamplesHG01524
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593261
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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