A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843605



Internal ID13275986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26714488..26714488hg38UCSC Ensembl
chr2:26937356..26937356hg19UCSC Ensembl
chr2:26790860..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 StatusS
Merged Variantsesv3310588
Supporting Variants
SamplesNA12878
Known GenesKCNK3
MethodSequencing
AnalysisSOAP de-novo
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843605
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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