A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723351



Internal ID10306987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33239799..33240013hg38UCSC Ensembl
Outerchr21:34612104..34612318hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784870, essv6909958, essv6917325, essv6972180, essv6828904, essv6689183, essv6721888, essv6666796, essv6859060, essv6961346, essv6675083, essv6853084, essv6703747, essv6824866, essv6807305, essv6906030, essv6836064, essv6769428, essv6941668, essv6710503, essv6810281, essv6686080
SamplesSSM075, SSM064, SSM079, SSM087, SSM039, SSM013, SSM074, SSM041, SSM028, SSM029, SSM026, SSM035, SSM031, SSM044, SSM014, SSM086, SSM068, SSM082, SSM016, SSM080, SSM022, SSM034
Known GenesIFNAR2
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)esv2723351
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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