A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3541054



Internal ID18395444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:2789133..2789408hg38UCSC Ensembl
Outerchr7:2789095..2789440hg38UCSC Ensembl
Innerchr7:2828767..2829042hg19UCSC Ensembl
Outerchr7:2828729..2829074hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739801
Samples
Known GenesGNA12
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3541054
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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