A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3182n106



Internal ID20162539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140842552..140859353hg38UCSC Ensembl
chr5:140222137..140238938hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3816802
hg1916802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1111683, nsv1112113
SamplesKWS2
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3182n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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