A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1694n106



Internal ID22795522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4121502..4122602hg38UCSC Ensembl
chr19:4121500..4122600hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1144858, nsv1133441
SamplesKWS2, KWS1
Known GenesMAP2K2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1694n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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