A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759574



Internal ID9635033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:150841733..150966609hg38UCSC Ensembl
Innerchr7:150538821..150663697hg19UCSC Ensembl
Innerchr7:150169754..150294630hg18UCSC Ensembl
Innerchr7:149976469..150101345hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38124877
hg19124877
hg18124877
hg17124877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758140
SamplesNA12762
Known GenesAOC1, KCNH2
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)esv2759574
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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