A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11145



Internal ID9608276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143700805..143883311hg38UCSC Ensembl
Innerchr7:143397898..143580404hg19UCSC Ensembl
Innerchr7:143028831..143211337hg18UCSC Ensembl
Innerchr7:142835546..143018052hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38182507
hg19182507
hg18182507
hg17182507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758138
Supporting Variants
SamplesNA19211
Known GenesCTAGE6, FAM115A, FAM115C, LOC154761
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)essv11145
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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