A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725076



Internal ID10308712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:28908701..28909265hg38UCSC Ensembl
Outerchr3:28950192..28950756hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38565
hg19565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847872, essv6854049, essv6711106, essv6766926, essv6785578, essv6807795, essv6751004, essv6844327, essv6683279, essv6821685, essv6714767, essv6878039, essv6707724
SamplesSSM075, SSM064, SSM079, SSM087, SSM093, SSM042, SSM041, SSM057, SSM069, SSM086, SSM085, SSM034, SSM043
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)esv2725076
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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