A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8905480



Internal ID12646166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33350731..33350749hg38UCSC Ensembl
Innerchr2:33350731..33350747hg38UCSC Ensembl
Outerchr2:33350713..33350767hg38UCSC Ensembl
chr2:33575798..33575816hg19UCSC Ensembl
Innerchr2:33575798..33575814hg19UCSC Ensembl
Outerchr2:33575780..33575834hg19UCSC Ensembl
chr2:33429302..33429320hg18UCSC Ensembl
Innerchr2:33429318..33429302hg18UCSC Ensembl
Outerchr2:33429284..33429338hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3408153
Supporting Variants
SamplesNA06986
Known GenesLTBP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8905480
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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