A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2193n106



Internal ID22796021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240923383..240925183hg38UCSC Ensembl
chr2:241862800..241864600hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381801
hg191801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1133495, nsv1126586
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2193n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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