A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6711191



Internal ID10123305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126534901..126535150hg38UCSC Ensembl
Outerchr3:126253744..126253993hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725870
Supporting Variants
SamplesSSM042
Known GenesCHST13
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)essv6711191
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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