A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18945



Internal ID9616941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:61100600..63367176hg38UCSC Ensembl
Innerchr7:61083325..62827554hg19UCSC Ensembl
Innerchr7:61087267..62464989hg18UCSC Ensembl
Innerchr7:60893982..62271704hg17UCSC Ensembl
Cytoband7q11.1
Allele length
AssemblyAllele length
hg382266577
hg191744230
hg181377723
hg171377723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758116
Supporting Variants
SamplesNA12005
Known GenesLOC100287704, LOC100287834, ZNF733P
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)essv18945
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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