A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23074



Internal ID9621530
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758407
Supporting Variants
SamplesNA12812
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)essv23074
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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