A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5730



Internal ID9627452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16566121..16799163hg38UCSC Ensembl
Innerchr1:16892616..17125658hg19UCSC Ensembl
Innerchr1:16765203..16998245hg18UCSC Ensembl
Innerchr1:16637922..16870964hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38233043
hg19233043
hg18233043
hg17233043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757725
Supporting Variants
SamplesNA18593
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
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)essv5730
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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