A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367914



Internal ID14868173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162788021..162788035hg38UCSC Ensembl
Innerchr2:162788021..162788033hg38UCSC Ensembl
Outerchr2:162788009..162788047hg38UCSC Ensembl
chr2:163644531..163644545hg19UCSC Ensembl
Innerchr2:163644531..163644543hg19UCSC Ensembl
Outerchr2:163644519..163644557hg19UCSC Ensembl
chr2:163352777..163352791hg18UCSC Ensembl
Innerchr2:163352789..163352777hg18UCSC Ensembl
Outerchr2:163352765..163352803hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38250
hg19250
hg18250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674538
SamplesNA19239
Known GenesKCNH7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367914
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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