A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3475n106



Internal ID19021584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2314465..2316765hg38UCSC Ensembl
chr7:2354100..2356400hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382301
hg192301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1124948, nsv1128931
SamplesKWS1, KWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3475n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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