A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863874



Internal ID13316334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20311153..20311165hg38UCSC Ensembl
Innerchr2:20311130..20311188hg38UCSC Ensembl
Outerchr2:20311118..20311200hg38UCSC Ensembl
chr2:20510914..20510926hg19UCSC Ensembl
Innerchr2:20510891..20510949hg19UCSC Ensembl
Outerchr2:20510879..20510961hg19UCSC Ensembl
chr2:20374395..20374407hg18UCSC Ensembl
Innerchr2:20374430..20374372hg18UCSC Ensembl
Outerchr2:20374360..20374442hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3328571
Supporting Variants
SamplesNA12005
Known GenesPUM2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863874
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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