A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9765468



Internal ID18393028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140843416..140858257hg38UCSC Ensembl
Outerchr5:140840563..140861415hg38UCSC Ensembl
Innerchr5:140223001..140237842hg19UCSC Ensembl
Outerchr5:140220148..140241000hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3820853
hg1920853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3566721
Supporting Variants
Samples
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9765468
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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