A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24973



Internal ID9623639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:61100600..63286406hg38UCSC Ensembl
Innerchr7:61083325..62746784hg19UCSC Ensembl
Innerchr7:61087267..62384219hg18UCSC Ensembl
Innerchr7:60893982..62190934hg17UCSC Ensembl
Cytoband7q11.1
Allele length
AssemblyAllele length
hg382185807
hg191663460
hg181296953
hg171296953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758116
Supporting Variants
SamplesNA10839
Known Genes
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)essv24973
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