A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17211



Internal ID9615016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72730822..73461568hg38UCSC Ensembl
Innerchr7:72195790..72875898hg19UCSC Ensembl
Innerchr7:71833726..72513834hg18UCSC Ensembl
Innerchr7:71640441..72320549hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38730747
hg19680109
hg18680109
hg17680109
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758612
Supporting Variants
SamplesNA19171
Known GenesBAZ1B, FKBP6, FZD9, GTF2IP1, LOC100093631, LOC100101148, LOC541473, NCF1B, NSUN5, NSUN5P2, PMS2L2, PMS2P5, POM121, SBDSP1, SPDYE7P, SPDYE8P, STAG3L1, STAG3L3, TRIM50, TRIM73, TRIM74, TYW1B
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)essv17211
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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