A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385417



Internal ID15232387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20635473..20635473hg38UCSC Ensembl
Innerchr2:20635472..20635474hg38UCSC Ensembl
Outerchr2:20635413..20635523hg38UCSC Ensembl
chr2:20835233..20835233hg19UCSC Ensembl
Innerchr2:20835232..20835234hg19UCSC Ensembl
Outerchr2:20835173..20835283hg19UCSC Ensembl
chr2:20698714..20698714hg18UCSC Ensembl
Innerchr2:20698715..20698713hg18UCSC Ensembl
Outerchr2:20698654..20698764hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38118
hg19118
hg18118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8828858
SamplesNA12878
Known GenesHS1BP3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385417
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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