A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1751n106



Internal ID22795579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:27240940..27247979hg38UCSC Ensembl
chr19:27731848..27738887hg19UCSC Ensembl
Cytoband19q11
Allele length
AssemblyAllele length
hg387040
hg197040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1126464, nsv1130731, nsv1130769
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1751n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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