A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759552



Internal ID9981697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:109769923..109967562hg38UCSC Ensembl
Innerchr7:109409980..109607619hg19UCSC Ensembl
Innerchr7:109197216..109394855hg18UCSC Ensembl
Innerchr7:109003931..109201570hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38197640
hg19197640
hg18197640
hg17197640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758614
SamplesNA12762, NA19194, NA06985, NA18521
Known GenesEIF3IP1
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)esv2759552
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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