A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2050n106



Internal ID22795878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142677036..142677376hg38UCSC Ensembl
chr2:143434605..143434945hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1111998, nsv1135099
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2050n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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