A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7169



Internal ID9629050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:101192611..101376281hg38UCSC Ensembl
Innerchr15:101732816..101916486hg19UCSC Ensembl
Innerchr15:99550339..99734009hg18UCSC Ensembl
Innerchr15:99550339..99734009hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38183671
hg19183671
hg18183671
hg17183671
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758403, esv2758402
Supporting Variants
SamplesNA18547
Known GenesCHSY1, LOC100507472, PCSK6, SNRPA1, VIMP
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv7169
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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