A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv814n106



Internal ID20160171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49019017..49021417hg38UCSC Ensembl
chr12:49412800..49415200hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382401
hg192401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1118237, nsv1121849
SamplesKWS2, KWS1
Known GenesKMT2D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv814n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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