A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863880



Internal ID13316342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27276261..27276273hg38UCSC Ensembl
Innerchr2:27276238..27276296hg38UCSC Ensembl
Outerchr2:27276226..27276308hg38UCSC Ensembl
chr2:27499129..27499141hg19UCSC Ensembl
Innerchr2:27499106..27499164hg19UCSC Ensembl
Outerchr2:27499094..27499176hg19UCSC Ensembl
chr2:27352633..27352645hg18UCSC Ensembl
Innerchr2:27352668..27352610hg18UCSC Ensembl
Outerchr2:27352598..27352680hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3326859
Supporting Variants
SamplesNA12005
Known GenesDNAJC5G
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863880
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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