A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1703n106



Internal ID22795531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7599214..7600914hg38UCSC Ensembl
chr19:7664100..7665800hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1136273, nsv1118812
SamplesKWS2, KWS1
Known GenesCAMSAP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1703n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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