A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837243



Internal ID14734757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162822113..162822114hg38UCSC Ensembl
Innerchr2:162822087..162822140hg38UCSC Ensembl
Outerchr2:162822086..162822141hg38UCSC Ensembl
chr2:163678623..163678624hg19UCSC Ensembl
Innerchr2:163678597..163678650hg19UCSC Ensembl
Outerchr2:163678596..163678651hg19UCSC Ensembl
chr2:163386869..163386870hg18UCSC Ensembl
Innerchr2:163386896..163386843hg18UCSC Ensembl
Outerchr2:163386842..163386897hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38147
hg19147
hg18147
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308737
Supporting Variants
SamplesNA19240
Known GenesKCNH7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837243
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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