A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2649n106



Internal ID20162006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:182793312..182793912hg38UCSC Ensembl
chr3:182511100..182511700hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1122073, nsv1145007
SamplesKWS2, KWS1
Known GenesATP11B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2649n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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