A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3392594



Internal ID15239559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9400162..9400356hg38UCSC Ensembl
Innerchr2:9400162..9400356hg38UCSC Ensembl
Outerchr2:9398485..9401195hg38UCSC Ensembl
chr2:9540291..9540485hg19UCSC Ensembl
Innerchr2:9540291..9540485hg19UCSC Ensembl
Outerchr2:9538614..9541324hg19UCSC Ensembl
chr2:9457742..9457936hg18UCSC Ensembl
Innerchr2:9457742..9457936hg18UCSC Ensembl
Outerchr2:9456065..9458775hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38195
hg19195
hg18195
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652212
SamplesNA19240
Known GenesASAP2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3392594
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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