A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310588



Internal ID14810853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:26714488..26714488hg38UCSC Ensembl
Outerchr2:26714488..26714488hg38UCSC Ensembl
Innerchr2:26937356..26937356hg19UCSC Ensembl
Outerchr2:26937356..26937356hg19UCSC Ensembl
Innerchr2:26790860..26790860hg18UCSC Ensembl
Outerchr2:26790860..26790860hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382387
hg192387
hg182387
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843605, essv7843629, essv7843591
SamplesNA12892, NA12891, NA12878
Known GenesKCNK3
MethodSequencing
AnalysisSOAP de-novo
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310588
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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