A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8815959



Internal ID13664425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102239439..102239439hg38UCSC Ensembl
Innerchr14:102239438..102239440hg38UCSC Ensembl
Outerchr14:102239379..102239489hg38UCSC Ensembl
chr14:102705776..102705776hg19UCSC Ensembl
Innerchr14:102705775..102705777hg19UCSC Ensembl
Outerchr14:102705716..102705826hg19UCSC Ensembl
chr14:101775529..101775529hg18UCSC Ensembl
Innerchr14:101775530..101775528hg18UCSC Ensembl
Outerchr14:101775469..101775579hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3366828
Supporting Variants
SamplesNA12878
Known GenesMOK
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8815959
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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