A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv749n106



Internal ID20160106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1256410..1257288hg38UCSC Ensembl
chr12:1365576..1366454hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38879
hg19879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1129861, nsv1110136, nsv1135692
SamplesKWS1
Known GenesERC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv749n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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