A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723294



Internal ID5070584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:27274152..27275330hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6735933, essv6853077, essv6967769, essv6675073, essv6686074, essv6668841, essv6868628, essv6761799, essv6892223, essv6756475, essv6679048, essv6863829, essv6909953
SamplesSSM027, SSM086, SSM061, SSM088, SSM089, SSM031, SSM032, SSM097, SSM030, SSM034, SSM014, SSM049, SSM058
Known GenesAPP
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2723294
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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