A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758613



Internal ID9980690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88457714..88700055hg38UCSC Ensembl
Innerchr7:88087029..88329369hg19UCSC Ensembl
Innerchr7:87924965..88167305hg18UCSC Ensembl
Innerchr7:87731680..87974020hg17UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38242342
hg19242341
hg18242341
hg17242341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759543
Supporting Variantsessv15596
SamplesNA19137
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)esv2758613
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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