A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758139



Internal ID9633598
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 StatusM
Merged Variantsesv2759571
Supporting Variantsessv6245, essv1908, essv1610, essv43, essv7374
SamplesNA18942, NA18991, NA18976, NA18636, NA18623
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)esv2758139
Frequency
Sample Size270
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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