A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693808



Internal ID14691967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114235715..114237413hg38UCSC Ensembl
Innerchr3:114236413..114236715hg38UCSC Ensembl
Outerchr3:114234715..114238413hg38UCSC Ensembl
chr3:113954562..113956260hg19UCSC Ensembl
Innerchr3:113955260..113955562hg19UCSC Ensembl
Outerchr3:113953562..113957260hg19UCSC Ensembl
chr3:115437252..115438950hg18UCSC Ensembl
Innerchr3:115438252..115437950hg18UCSC Ensembl
Outerchr3:115436252..115439950hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3439997
Supporting Variants
SamplesNA19239
Known GenesZNF80
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693808
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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