A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv748n106



Internal ID20160105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1122625..1122701hg38UCSC Ensembl
chr12:1231791..1231867hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1120253, nsv1140496
SamplesKWS1, KWS2
Known GenesERC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv748n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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