A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv781n106



Internal ID22794609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22418366..22432066hg38UCSC Ensembl
chr12:22571300..22585000hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3813701
hg1913701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112618, nsv1126313
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv781n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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