A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863904



Internal ID13316372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60310207..60310218hg38UCSC Ensembl
Innerchr2:60310209..60310216hg38UCSC Ensembl
Outerchr2:60310205..60310220hg38UCSC Ensembl
chr2:60537342..60537353hg19UCSC Ensembl
Innerchr2:60537344..60537351hg19UCSC Ensembl
Outerchr2:60537340..60537355hg19UCSC Ensembl
chr2:60390846..60390857hg18UCSC Ensembl
Innerchr2:60390848..60390855hg18UCSC Ensembl
Outerchr2:60390844..60390859hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3434756
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863904
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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