A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21989



Internal ID9957333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:111160855..111325477hg38UCSC Ensembl
Innerchr7:110800911..110965533hg19UCSC Ensembl
Innerchr7:110588147..110752769hg18UCSC Ensembl
Innerchr7:110394862..110559484hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38164623
hg19164623
hg18164623
hg17164623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758130
Supporting Variants
SamplesNA11995
Known GenesIMMP2L
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)essv21989
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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