A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865713



Internal ID13318020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21233889..21233897hg38UCSC Ensembl
Innerchr14:21233872..21233914hg38UCSC Ensembl
Outerchr14:21233864..21233922hg38UCSC Ensembl
chr14:21702048..21702056hg19UCSC Ensembl
Innerchr14:21702031..21702073hg19UCSC Ensembl
Outerchr14:21702023..21702081hg19UCSC Ensembl
chr14:20771888..20771896hg18UCSC Ensembl
Innerchr14:20771913..20771871hg18UCSC Ensembl
Outerchr14:20771863..20771921hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3335931
Supporting Variants
SamplesNA12005
Known GenesHNRNPC
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865713
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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