A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3180n106



Internal ID20162537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138352611..138353111hg38UCSC Ensembl
chr5:137688300..137688800hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1119039, nsv1133614
SamplesKWS2, KWS1
Known GenesKDM3B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3180n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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