A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22574



Internal ID9954826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:19396420..19581339hg38UCSC Ensembl
Innerchr7:19436043..19620962hg19UCSC Ensembl
Innerchr7:19402568..19587487hg18UCSC Ensembl
Innerchr7:19209283..19394202hg17UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38184920
hg19184920
hg18184920
hg17184920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758107
Supporting Variants
SamplesNA07348
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)essv22574
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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