A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3339619



Internal ID14839889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231118123..231118143hg38UCSC Ensembl
Innerchr2:231118122..231118141hg38UCSC Ensembl
Outerchr2:231118102..231118164hg38UCSC Ensembl
chr2:231982837..231982857hg19UCSC Ensembl
Innerchr2:231982836..231982855hg19UCSC Ensembl
Outerchr2:231982816..231982878hg19UCSC Ensembl
chr2:231691081..231691101hg18UCSC Ensembl
Innerchr2:231691099..231691080hg18UCSC Ensembl
Outerchr2:231691060..231691122hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38246
hg19246
hg18246
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8911405, essv8911408, essv8911402, essv8911409, essv8911407, essv8911404, essv8911401, essv8911400, essv8911406
SamplesNA18502, NA18861, NA18519, NA18916, NA19138, NA19172, NA19093, NA18505, NA18511
Known GenesHTR2B, PSMD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3339619
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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