A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv786n106



Internal ID20160143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27281054..27281385hg38UCSC Ensembl
chr12:27433987..27434318hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1122710, nsv1136115
SamplesKWS1, KWS2
Known GenesSTK38L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv786n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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