A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1704n106



Internal ID22795532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7842014..7843714hg38UCSC Ensembl
chr19:7906900..7908600hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1139694, nsv1110318
SamplesKWS2, KWS1
Known GenesEVI5L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1704n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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