A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6757



Internal ID9964178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:111228171..111587233hg38UCSC Ensembl
Innerchr7:110868227..111227289hg19UCSC Ensembl
Innerchr7:110655463..111014525hg18UCSC Ensembl
Innerchr7:110462178..110821240hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38359063
hg19359063
hg18359063
hg17359063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758130
Supporting Variants
SamplesNA18562
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)essv6757
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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