A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4462



Internal ID9626043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:53974575..54131295hg38UCSC Ensembl
Innerchr6:53839373..53996093hg19UCSC Ensembl
Innerchr6:53947332..54104052hg18UCSC Ensembl
Innerchr6:53947332..54104052hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38156721
hg19156721
hg18156721
hg17156721
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758055
Supporting Variants
SamplesNA18552
Known GenesMLIP, MLIP-IT1
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)essv4462
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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