A curated catalogue of human genomic structural variation




Variant Details

Variant: essv84216



Internal ID11303527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140843471..140856955hg38UCSC Ensembl
Innerchr5:140223056..140236540hg19UCSC Ensembl
Innerchr5:140203240..140216724hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3813485
hg1913485
hg1813485
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv29977
Supporting Variants
SamplesHuRef
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv84216
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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