A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2350n106



Internal ID22796178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10475692..10476288hg38UCSC Ensembl
chr21:11036169..11036765hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38597
hg19597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1121242, nsv1135121
SamplesKWS2, KWS1
Known GenesBAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2350n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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