A curated catalogue of human genomic structural variation




Variant Details

Variant: essv333



Internal ID9970645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72862179..73461568hg38UCSC Ensembl
Innerchr7:72332743..72875898hg19UCSC Ensembl
Innerchr7:71970679..72513834hg18UCSC Ensembl
Innerchr7:71777394..72320549hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38599390
hg19543156
hg18543156
hg17543156
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758612
Supporting Variants
SamplesNA18971
Known GenesBAZ1B, FKBP6, FZD9, GTF2IP1, LOC100093631, LOC100101148, LOC541473, NCF1B, NSUN5, NSUN5P2, PMS2L2, PMS2P5, POM121, SPDYE7P, SPDYE8P, STAG3L1, STAG3L3, TRIM50, TRIM73, TRIM74
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)essv333
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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