A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9750813



Internal ID18378373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:101923810..101923922hg38UCSC Ensembl
Outerchr14:101923803..101923930hg38UCSC Ensembl
Innerchr14:102390147..102390259hg19UCSC Ensembl
Outerchr14:102390140..102390267hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3552066
Supporting Variants
Samples
Known GenesPPP2R5C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9750813
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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