A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554400



Internal ID18755476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:30712114..30712226hg38UCSC Ensembl
Outerchr2:30712107..30712234hg38UCSC Ensembl
Innerchr2:30934980..30935092hg19UCSC Ensembl
Outerchr2:30934973..30935100hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753147
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554400
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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