A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724809



Internal ID9959111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:2881633..2881785hg38UCSC Ensembl
Outerchr3:2923317..2923469hg19UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6711076, essv6942386, essv6825535, essv6700173, essv6955625, essv6922268, essv6929628, essv6847829, essv6773916, essv6793822, essv6797993, essv6973320, essv6675697, essv6785553, essv6707701
SamplesSSM071, SSM039, SSM042, SSM041, SSM023, SSM018, SSM069, SSM029, SSM026, SSM032, SSM086, SSM066, SSM072, SSM020, SSM080
Known GenesCNTN4
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)esv2724809
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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