A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14148



Internal ID9611612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16437838..17016273hg38UCSC Ensembl
Innerchr1:16764333..17342768hg19UCSC Ensembl
Innerchr1:16636920..17215355hg18UCSC Ensembl
Innerchr1:16509639..17088074hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38578436
hg19578436
hg18578436
hg17578436
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757725
Supporting Variants
SamplesNA19140
Known GenesATP13A2, CROCC, CROCCP2, CROCCP3, ESPNP, LOC729574, MFAP2, MIR3675, MST1L, MST1P2, NBPF1, NECAP2
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)essv14148
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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