A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758430



Internal ID9633889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:71942441..72240448hg38UCSC Ensembl
Innerchr16:71976344..72274347hg19UCSC Ensembl
Innerchr16:70533845..70831848hg18UCSC Ensembl
Innerchr16:70533845..70831848hg17UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg38298008
hg19298004
hg18298004
hg17298004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758654
Supporting Variantsessv10017, essv15496, essv9108, essv15666, essv15833, essv13137, essv12393, essv8855, essv8293, essv13434, essv11832, essv11897, essv16723, essv14291, essv10377, essv14758, essv17324, essv17255, essv11500, essv16257
SamplesNA19222, NA18508, NA19192, NA18860, NA19238, NA19159, NA19194, NA19161, NA19103, NA18503, NA19221, NA19142, NA18856, NA18912, NA19099, NA19223, NA19173, NA18521, NA19102, NA18505
Known GenesDHODH, DHX38, HP, HPR, PKD1L3, PMFBP1, TXNL4B
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)esv2758430
Frequency
Sample Size270
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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