A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723191



Internal ID9957491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:16398044..16398267hg38UCSC Ensembl
Outerchr21:17770364..17770587hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv703e201
Supporting Variantsessv6917305, essv6898524, essv6816479, essv6682738, essv6843774, essv6941652, essv6733385
SamplesSSM084, SSM047, SSM033, SSM016, SSM077, SSM022, SSM099
Known GenesLINC00478
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)esv2723191
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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