A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12165



Internal ID9609409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41145123..41713358hg38UCSC Ensembl
Innerchr17:39301375..39869610hg19UCSC Ensembl
Innerchr17:36554901..37123136hg18UCSC Ensembl
Innerchr17:36554901..37123136hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38568236
hg19568236
hg18568236
hg17568236
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758455
Supporting Variants
SamplesNA19101
Known GenesEIF1, GAST, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, KRT36, KRT37, KRT38, KRT42P, KRT9, KRTAP16-1, KRTAP17-1, KRTAP29-1, KRTAP4-1, KRTAP4-2, KRTAP4-3, KRTAP4-4, KRTAP4-5, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-6, KRTAP9-7, KRTAP9-8, KRTAP9-9, LINC00974, LOC100505782, MIR6510
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)essv12165
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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