A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16086



Internal ID9961688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31894702..32210963hg38UCSC Ensembl
Innerchr17:30221721..30537982hg19UCSC Ensembl
Innerchr17:27245834..27562095hg18UCSC Ensembl
Innerchr17:27245834..27562095hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38316262
hg19316262
hg18316262
hg17316262
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758449
Supporting Variants
SamplesNA18501
Known GenesARGFXP2, LRRC37B, RHOT1, SH3GL1P1, SUZ12, UTP6
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)essv16086
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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