A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12598



Internal ID9609889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:72527444..72828219hg38UCSC Ensembl
Innerchr15:72819785..73120560hg19UCSC Ensembl
Innerchr15:70606839..70907613hg18UCSC Ensembl
Innerchr15:70606839..70907613hg17UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38300776
hg19300776
hg18300775
hg17300775
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758386
Supporting Variants
SamplesNA19098
Known GenesADPGK, ADPGK-AS1, ARIH1, BBS4, GOLGA6B, HIGD2B, MIR630
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)essv12598
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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