A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6961371



Internal ID9720632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41806063..41806247hg38UCSC Ensembl
Outerchr21:43226223..43226407hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723502, esv2723501, esv2723503, esv2723504
Supporting Variants
SamplesSSM026
Known GenesPRDM15
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)essv6961371
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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