A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422376



Internal ID3032165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100743485..101016471hg19UCSC Ensembl
Innerchr7:100530205..100803191hg18UCSC Ensembl
Innerchr7:100336920..100609906hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Duplication
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5161402
SamplesND00940
Known GenesAP1S1, C7orf52, CLDN15, EMID2, FIS1, MIR4653, MOGAT3, PLOD3, RABL5, SERPINE1, VGF, ZNHIT1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422376
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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