A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758611



Internal ID9980688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:57526343..57899868hg38UCSC Ensembl
Innerchr7:57586049..57959574hg19UCSC Ensembl
Innerchr7:57589991..57963516hg18UCSC Ensembl
Innerchr7:57396706..57770231hg17UCSC Ensembl
Cytoband7p11.1
Allele length
AssemblyAllele length
hg38373526
hg19373526
hg18373526
hg17373526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759532
Supporting Variantsessv11004, essv890
SamplesNA19000, NA19143
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)esv2758611
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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