A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11703



Internal ID9608896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31903735..32125066hg38UCSC Ensembl
Innerchr6:31871512..32092843hg19UCSC Ensembl
Innerchr6:31979491..32200821hg18UCSC Ensembl
Innerchr6:31979491..32200821hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38221332
hg19221332
hg18221331
hg17221331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758043
Supporting Variants
SamplesNA19154
Known GenesATF6B, C2, C4A, C4B, C4B_2, CFB, CYP21A1P, CYP21A2, DXO, LOC102060414, MIR1236, NELFE, SKIV2L, STK19, TNXA, TNXB
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)essv11703
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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