A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758117



Internal ID9980194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65090896..65821690hg38UCSC Ensembl
Innerchr7:64551274..65286677hg19UCSC Ensembl
Innerchr7:64188709..64924112hg18UCSC Ensembl
Innerchr7:63995424..64730827hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38730795
hg19735404
hg18735404
hg17735404
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759534
Supporting Variantsessv18748, essv4241, essv3098, essv1772, essv24422, essv17579, essv1373, essv19416, essv2014, essv17805, essv80, essv8161, essv3044, essv21834, essv19553
SamplesNA18603, NA18969, NA12762, NA18949, NA19007, NA10831, NA18991, NA11839, NA18981, NA11840, NA12707, NA19206, NA12864, NA12874, NA18997
Known GenesCCT6P1, INTS4L2, LOC441242, SNORA22, ZNF92
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)esv2758117
Frequency
Sample Size270
Observed Gain1
Observed Loss14
Observed Complex0
Frequencyn/a


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