A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15078



Internal ID9612645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:58958273..59211601hg38UCSC Ensembl
Innerchr10:60718033..60971361hg19UCSC Ensembl
Innerchr10:60388039..60641367hg18UCSC Ensembl
Innerchr10:60388039..60641367hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38253329
hg19253329
hg18253329
hg17253329
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758225
Supporting Variants
SamplesNA19129
Known GenesLINC00844, PHYHIPL
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)essv15078
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer