A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1617n106



Internal ID22795445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59590943..59591285hg38UCSC Ensembl
chr18:57258175..57258517hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1121183, nsv1120730, nsv1118292
SamplesKWS2, KWS1
Known GenesCCBE1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1617n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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