A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6714788



Internal ID10126790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51861136..51861527hg38UCSC Ensembl
Outerchr3:51895152..51895543hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725267, esv2725266
Supporting Variants
SamplesSSM043
Known Genes
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)essv6714788
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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