A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3552414



Internal ID18753490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:48258078..48258377hg38UCSC Ensembl
Outerchr15:48258014..48258439hg38UCSC Ensembl
Innerchr15:48550275..48550574hg19UCSC Ensembl
Outerchr15:48550211..48550636hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751161
Samples
Known GenesSLC12A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3552414
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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