A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2552n106



Internal ID22796380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81546418..81550549hg38UCSC Ensembl
chr3:81595569..81599700hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg384132
hg194132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112040, nsv1135357
SamplesKWS2
Known GenesGBE1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2552n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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