A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348200



Internal ID15195182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157033929..157033975hg38UCSC Ensembl
Innerchr2:157033940..157033961hg38UCSC Ensembl
Outerchr2:157033897..157034007hg38UCSC Ensembl
chr2:157890441..157890487hg19UCSC Ensembl
Innerchr2:157890452..157890473hg19UCSC Ensembl
Outerchr2:157890409..157890519hg19UCSC Ensembl
chr2:157598687..157598733hg18UCSC Ensembl
Innerchr2:157598719..157598698hg18UCSC Ensembl
Outerchr2:157598655..157598765hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38230
hg19230
hg18230
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8908946, essv8908949, essv8908947
SamplesNA18870, NA18489, NA18853
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348200
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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