A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759499



Internal ID9634958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:1159459..1650311hg38UCSC Ensembl
Innerchr7:1199095..1689947hg19UCSC Ensembl
Innerchr7:1165621..1656473hg18UCSC Ensembl
Innerchr7:972336..1463188hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38490853
hg19490853
hg18490853
hg17490853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758099
SamplesNA18861
Known GenesINTS1, MAFK, MICALL2, PSMG3, PSMG3-AS1, TFAMP1, TMEM184A, UNCX, ZFAND2A
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)esv2759499
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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