A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760067



Internal ID9635526
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 Variants
Supporting Variantsesv2758407
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)esv2760067
Frequency
Sample Size270
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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