A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3370902



Internal ID14871161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26714489..26714489hg38UCSC Ensembl
Innerchr2:26714488..26714490hg38UCSC Ensembl
Outerchr2:26714439..26714539hg38UCSC Ensembl
chr2:26937357..26937357hg19UCSC Ensembl
Innerchr2:26937356..26937358hg19UCSC Ensembl
Outerchr2:26937307..26937407hg19UCSC Ensembl
chr2:26790861..26790861hg18UCSC Ensembl
Innerchr2:26790862..26790860hg18UCSC Ensembl
Outerchr2:26790811..26790911hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382387
hg192387
hg182387
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653288, essv8653287, essv8653289
SamplesNA12892, NA12891, NA12878
Known GenesKCNK3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3370902
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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