A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593002



Internal ID6980329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154877615..154883588hg38UCSC Ensembl
Innerchr2:154877622..154883581hg38UCSC Ensembl
Outerchr2:154877608..154883595hg38UCSC Ensembl
chr2:155734127..155740100hg19UCSC Ensembl
Innerchr2:155734134..155740093hg19UCSC Ensembl
Outerchr2:155734120..155740107hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg385974
hg195974
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10720004
SamplesNA19658
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593002
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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