A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758612



Internal ID9980689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72446485..73461568hg38UCSC Ensembl
Innerchr7:71911470..72875898hg19UCSC Ensembl
Innerchr7:71549406..72513834hg18UCSC Ensembl
Innerchr7:71356121..72320549hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg381015084
hg19964429
hg18964429
hg17964429
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759537
Supporting Variantsessv2538, essv15367, essv9994, essv8164, essv3103, essv333, essv16191, essv16067, essv23901, essv14797, essv17211, essv17974, essv2033, essv16958, essv16117, essv15677
SamplesNA18862, NA12814, NA18969, NA19171, NA18949, NA19159, NA12003, NA19161, NA18912, NA19099, NA19003, NA19206, NA19100, NA19144, NA18501, NA18971
Known GenesBAZ1B, FKBP6, FZD9, GTF2IP1, LOC100093631, LOC100101148, LOC541473, MIR4650-1, MIR4650-2, 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)esv2758612
Frequency
Sample Size270
Observed Gain15
Observed Loss1
Observed Complex0
Frequencyn/a


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