A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593291



Internal ID6980615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167625228..167633680hg38UCSC Ensembl
Innerchr2:167625728..167633180hg38UCSC Ensembl
Outerchr2:167624228..167634680hg38UCSC Ensembl
chr2:168481738..168490190hg19UCSC Ensembl
Innerchr2:168482238..168489690hg19UCSC Ensembl
Outerchr2:168480738..168491190hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg388453
hg198453
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10751020, essv10751021
SamplesHG00704, NA19323
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593291
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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