A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24422



Internal ID9959176
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758117
Supporting Variants
SamplesNA12707
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)essv24422
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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