A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759561



Internal ID9981706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:126020755..126254811hg38UCSC Ensembl
Innerchr7:125660809..125894865hg19UCSC Ensembl
Innerchr7:125448045..125682101hg18UCSC Ensembl
Innerchr7:125254760..125488816hg17UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg38234057
hg19234057
hg18234057
hg17234057
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758615
SamplesNA18592, NA07022
Known Genes
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)esv2759561
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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