A curated catalogue of human genomic structural variation




Variant Details

Variant: essv220



Internal ID9620336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:90962271..91261496hg38UCSC Ensembl
Innerchr8:91974499..92273724hg19UCSC Ensembl
Innerchr8:92043675..92342900hg18UCSC Ensembl
Innerchr8:92043675..92342900hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38299226
hg19299226
hg18299226
hg17299226
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758623
Supporting Variants
SamplesNA18948
Known GenesC8orf88, LRRC69, MIR4661, OTUD6B, SLC26A7, TMEM55A
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)essv220
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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