A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv796n106



Internal ID19018905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32810665..32810980hg38UCSC Ensembl
chr12:32963599..32963914hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1122718, nsv1112731, nsv1132320
SamplesKWS1, KWS2
Known GenesPKP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv796n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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