A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8964689



Internal ID14903824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20854912..20855010hg38UCSC Ensembl
Innerchr14:20854941..20854979hg38UCSC Ensembl
Outerchr14:20854843..20855079hg38UCSC Ensembl
chr14:21323071..21323169hg19UCSC Ensembl
Innerchr14:21323100..21323138hg19UCSC Ensembl
Outerchr14:21323002..21323238hg19UCSC Ensembl
chr14:20392911..20393009hg18UCSC Ensembl
Innerchr14:20392978..20392940hg18UCSC Ensembl
Outerchr14:20392842..20393078hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38242
hg19242
hg18242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3338756
Supporting Variants
SamplesNA19138
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8964689
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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