A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557578



Internal ID18758654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:62229971..62230251hg38UCSC Ensembl
Outerchr2:62229916..62230355hg38UCSC Ensembl
Innerchr2:62457106..62457386hg19UCSC Ensembl
Outerchr2:62457051..62457490hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756325
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557578
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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