A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6176



Internal ID9627947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:61100600..61293876hg38UCSC Ensembl
Innerchr7:61083325..61276601hg19UCSC Ensembl
Innerchr7:61087267..61280543hg18UCSC Ensembl
Innerchr7:60893982..61087258hg17UCSC Ensembl
Cytoband7q11.1
Allele length
AssemblyAllele length
hg38193277
hg19193277
hg18193277
hg17193277
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758116
Supporting Variants
SamplesNA18532
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)essv6176
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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