A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726483



Internal ID10310119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195694483..195695026hg38UCSC Ensembl
Outerchr3:195421354..195421897hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38544
hg19544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6973659, essv6918136, essv6848139, essv6829621, essv6670082, essv6754045, essv6962657, essv6790232, essv6860046, essv6955927, essv6843598
SamplesSSM027, SSM009, SSM088, SSM002, SSM058, SSM029, SSM026, SSM017, SSM031, SSM086, SSM081
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)esv2726483
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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