A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6955837



Internal ID9717938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:133415591..133415679hg38UCSC Ensembl
Outerchr3:133134435..133134523hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725939, esv2725941
Supporting Variants
SamplesSSM026
Known GenesBFSP2
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)essv6955837
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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