A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1610



Internal ID9613781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149744501..150259326hg38UCSC Ensembl
Innerchr7:149441590..149956415hg19UCSC Ensembl
Innerchr7:149072523..149587348hg18UCSC Ensembl
Innerchr7:148879238..149394063hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38514826
hg19514826
hg18514826
hg17514826
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758139
Supporting Variants
SamplesNA18942
Known GenesACTR3C, ATP6V0E2, ATP6V0E2-AS1, SSPO, ZNF467, ZNF862
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)essv1610
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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