A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv861n106



Internal ID20160218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99399922..99408992hg38UCSC Ensembl
chr12:99793700..99802770hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg389071
hg199071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1129939, nsv1118496
SamplesKWS1
Known GenesANKS1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv861n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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