A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21074



Internal ID9619308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142618692..142909521hg38UCSC Ensembl
Innerchr7:142326242..142606687hg19UCSC Ensembl
Innerchr7:142007198..142316809hg18UCSC Ensembl
Innerchr7:141813913..142123524hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38290830
hg19280446
hg18309612
hg17309612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758137
Supporting Variants
SamplesNA06991
Known GenesEPHB6, MTRNR2L6, PRSS1, PRSS2, PRSS3P2, TRPV5, TRPV6
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)essv21074
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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