A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723294



Internal ID3273790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:25901840..25903018hg38UCSC Ensembl
Outerchr21:27274152..27275330hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg381179
hg191179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
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
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2723294
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer