A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725170



Internal ID10308806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38877200..38877901hg38UCSC Ensembl
Outerchr3:38918691..38919392hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6906685, essv6892800, essv6854069, essv6889486, essv6933882, essv6859855, essv6847894, essv6766938, essv6864645, essv6817223, essv6947053, essv6854070, essv6669850
SamplesSSM024, SSM064, SSM087, SSM097, SSM088, SSM021, SSM089, SSM031, SSM014, SSM086, SSM078, SSM098
Known GenesSCN11A
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)esv2725170
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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