A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696654



Internal ID13657670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:39855834..39861132hg38UCSC Ensembl
Innerchr9:39856834..39860132hg38UCSC Ensembl
Outerchr9:39854834..39862132hg38UCSC Ensembl
chr9:42000852..42006150hg19UCSC Ensembl
Innerchr9:42001852..42005150hg19UCSC Ensembl
Outerchr9:41999852..42007150hg19UCSC Ensembl
chr9:41990852..41996150hg18UCSC Ensembl
Innerchr9:41991852..41995150hg18UCSC Ensembl
Outerchr9:41989852..41997150hg18UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg385299
hg195299
hg185299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3353162
Supporting Variants
SamplesNA12878
Known GenesKGFLP2, LOC643648
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696654
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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