A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6618



Internal ID9628438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18331211..18506312hg38UCSC Ensembl
Innerchr17:18234525..18409626hg19UCSC Ensembl
Innerchr17:18175250..18350351hg18UCSC Ensembl
Innerchr17:18175250..18350351hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38175102
hg19175102
hg18175102
hg17175102
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758443
Supporting Variants
SamplesNA18621
Known GenesEVPLL, FLJ35934, KRT16P1, LGALS9C, LOC339240, MIR6778, SHMT1
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)essv6618
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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