A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723556



Internal ID9957856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42569770..42570443hg38UCSC Ensembl
Outerchr21:43989880..43990553hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6816176, essv6906047, essv6699530, essv6821098, essv6718431, essv6784889, essv6764128, essv6868655, essv6759000, essv6797487, essv6824882, essv6967809, essv6859085, essv6689197
SamplesSSM059, SSM027, SSM079, SSM087, SSM038, SSM013, SSM009, SSM062, SSM089, SSM035, SSM001, SSM006, SSM068, SSM078
Known GenesSLC37A1
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)esv2723556
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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