A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1576n106



Internal ID20160933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37485137..37485737hg38UCSC Ensembl
chr18:35065100..35065700hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1144831, nsv1136252
SamplesKWS1, KWS2
Known GenesCELF4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1576n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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