A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723388



Internal ID10307024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:36054637..36055111hg38UCSC Ensembl
Outerchr21:37426935..37427409hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6843795, essv6902435, essv6666801, essv6703750, essv6710504, essv6853091
SamplesSSM039, SSM041, SSM084, SSM029, SSM086, SSM012
Known GenesSETD4
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)esv2723388
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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