A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725165



Internal ID10308801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38876714..38877553hg38UCSC Ensembl
Outerchr3:38918205..38919044hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38840
hg19840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955696, essv6742552, essv6673121, essv6881553, essv6802017, essv6707736, essv6700209, essv6704312, essv6807807, essv6854069, essv6921429, essv6762163, essv6764524, essv6848643, essv6896375, essv6914435, essv6906683, essv6683290, essv6817222, essv6962436, essv6789088, essv6739305, essv6864644, essv6938214, essv6753928, essv6667161, essv6711122, essv6859853, essv6942437, essv6736401, essv6872132, essv6973394
SamplesSSM027, SSM075, SSM011, SSM087, SSM039, SSM009, SSM073, SSM050, SSM042, SSM088, SSM041, SSM023, SSM058, SSM029, SSM062, SSM026, SSM089, SSM003, SSM001, SSM014, SSM040, SSM078, SSM016, SSM053, SSM005, SSM022, SSM091, SSM034, SSM052, SSM030, SSM063, SSM012
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)esv2725165
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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