A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15107



Internal ID9612678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155122502..155345016hg38UCSC Ensembl
Innerchr1:155094978..155314807hg19UCSC Ensembl
Innerchr1:153361602..153581431hg18UCSC Ensembl
Innerchr1:151908051..152127880hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38222515
hg19219830
hg18219830
hg17219830
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757756
Supporting Variants
SamplesNA19129
Known GenesASH1L, CLK2, DPM3, EFNA1, FAM189B, FDPS, GBA, GBAP1, HCN3, KRTCAP2, MIR92B, MTX1, MUC1, PKLR, RUSC1, RUSC1-AS1, SCAMP3, SLC50A1, THBS3, TRIM46
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)essv15107
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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