A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23829



Internal ID9622368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:57150948..57450885hg38UCSC Ensembl
Innerchr8:58063507..58363444hg19UCSC Ensembl
Innerchr8:58226061..58525998hg18UCSC Ensembl
Innerchr8:58226061..58525998hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38299938
hg19299938
hg18299938
hg17299938
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758161
Supporting Variants
SamplesNA12763
Known GenesLINC00588, LOC100507651, LOC286177
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)essv23829
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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