A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19201



Internal ID9617227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:31249293..31891249hg38UCSC Ensembl
Innerchr1:31722140..32356850hg19UCSC Ensembl
Innerchr1:31494727..32129437hg18UCSC Ensembl
Innerchr1:31391233..32025943hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38641957
hg19634711
hg18634711
hg17634711
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757728
Supporting Variants
SamplesNA12865
Known GenesBAI2, COL16A1, FABP3, HCRTR1, LOC149086, LOC284551, MIR4254, PEF1, SERINC2, SNRNP40, SPOCD1, TINAGL1, ZCCHC17
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)essv19201
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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