A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731328



Internal ID15044856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36810879..36810967hg38UCSC Ensembl
Innerchr14:36810922..36810923hg38UCSC Ensembl
Outerchr14:36810779..36811067hg38UCSC Ensembl
chr14:37280084..37280172hg19UCSC Ensembl
Innerchr14:37280127..37280128hg19UCSC Ensembl
Outerchr14:37279984..37280272hg19UCSC Ensembl
chr14:36349835..36349923hg18UCSC Ensembl
Innerchr14:36349879..36349878hg18UCSC Ensembl
Outerchr14:36349735..36350023hg18UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg3889
hg1989
hg1889
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302679
Supporting Variants
SamplesNA19239
Known GenesSLC25A21
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731328
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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