A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758136



Internal ID9633595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142010611..142229156hg38UCSC Ensembl
Innerchr7:141710411..141928956hg19UCSC Ensembl
Innerchr7:141356880..141575430hg18UCSC Ensembl
Innerchr7:141163595..141382145hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38218546
hg19218546
hg18218551
hg17218551
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759568
Supporting Variantsessv2073, essv21527, essv5404, essv23939, essv278, essv23548, essv18157, essv20601, essv18633, essv21011, essv1178, essv19575, essv24742, essv22082, essv20278, essv19410, essv20442, essv18307, essv2516
SamplesNA11829, NA12814, NA18563, NA10846, NA06993, NA18949, NA11993, NA18951, NA12234, NA11840, NA10830, NA12144, NA19003, NA18978, NA06991, NA12864, NA12873, NA07056, NA12154
Known GenesLOC93432, MGAM
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)esv2758136
Frequency
Sample Size270
Observed Gain1
Observed Loss18
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer