A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593292



Internal ID6980616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167657467..167711507hg38UCSC Ensembl
Innerchr2:167657467..167711507hg38UCSC Ensembl
Outerchr2:167656967..167712007hg38UCSC Ensembl
chr2:168513977..168568017hg19UCSC Ensembl
Innerchr2:168513977..168568017hg19UCSC Ensembl
Outerchr2:168513477..168568517hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3854041
hg1954041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10751022
SamplesHG00704
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593292
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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