A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1551n106



Internal ID20160908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10782273..10782398hg38UCSC Ensembl
chr18:10782271..10782396hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1116250, nsv1134697
SamplesKWS1, KWS2
Known GenesPIEZO2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1551n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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