A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758407



Internal ID9633866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2486824..2820535hg38UCSC Ensembl
Innerchr16:2536825..2870536hg19UCSC Ensembl
Innerchr16:2476826..2810537hg18UCSC Ensembl
Innerchr16:2476826..2810537hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38333712
hg19333712
hg18333712
hg17333712
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760067
Supporting Variantsessv20934, essv19898, essv23074, essv20057, essv7320, essv7533
SamplesNA18545, NA12801, NA12813, NA12812, NA07048, NA18570
Known GenesAMDHD2, ATP6V0C, CEMP1, ERVK13-1, FLJ42627, KCTD5, LOC652276, MIR3178, PDPK1, PRSS21, PRSS27, PRSS33, PRSS41, SRRM2, SRRM2-AS1, TBC1D24, TCEB2
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)esv2758407
Frequency
Sample Size270
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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