A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17309



Internal ID9615124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:63227793..63648997hg38UCSC Ensembl
Innerchr7:62688171..63109375hg19UCSC Ensembl
Innerchr7:62325606..62746810hg18UCSC Ensembl
Innerchr7:62132321..62553525hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38421205
hg19421205
hg18421205
hg17421205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758116
Supporting Variants
SamplesNA18856
Known GenesLOC100287704, LOC100287834, MIR4283-1, MIR4283-2, 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)essv17309
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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