A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693770



Internal ID14729424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95036080..95040778hg38UCSC Ensembl
Innerchr2:95037080..95039778hg38UCSC Ensembl
Outerchr2:95035080..95041778hg38UCSC Ensembl
chr2:95701825..95706523hg19UCSC Ensembl
Innerchr2:95702825..95705523hg19UCSC Ensembl
Outerchr2:95700825..95707523hg19UCSC Ensembl
chr2:95065552..95070250hg18UCSC Ensembl
Innerchr2:95066552..95069250hg18UCSC Ensembl
Outerchr2:95064552..95071250hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg384699
hg194699
hg184699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3444058
Supporting Variants
SamplesNA19240
Known GenesMAL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693770
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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