A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14979



Internal ID9612534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18331211..18543070hg38UCSC Ensembl
Innerchr17:18234525..18446384hg19UCSC Ensembl
Innerchr17:18175250..18387109hg18UCSC Ensembl
Innerchr17:18175250..18387109hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38211860
hg19211860
hg18211860
hg17211860
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758443
Supporting Variants
SamplesNA18870
Known GenesCCDC144B, EVPLL, FAM106A, FLJ35934, KRT16P1, LGALS9C, LOC339240, MIR6778, SHMT1, USP32P2
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)essv14979
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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