A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725260



Internal ID10308896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51738507..51739243hg38UCSC Ensembl
Outerchr3:51772523..51773259hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg38737
hg19737
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6798045, essv6955717, essv6704323, essv6921540, essv6847913, essv6968554, essv6817238, essv6886382, essv6751021, essv6938227, essv6854084, essv6753697, essv6773955, essv6697385, essv6962452, essv6844345, essv6759457, essv6922321, essv6864656, essv6789166, essv6722535, essv6899053, essv6942446, essv6730140, essv6973413, essv6699044, essv6802027, essv6947067, essv6726387, essv6821705, essv6829512, essv6793870
SamplesSSM100, SSM008, SSM071, SSM027, SSM024, SSM045, SSM046, SSM079, SSM087, SSM038, SSM009, SSM073, SSM057, SSM023, SSM028, SSM047, SSM018, SSM061, SSM029, SSM096, SSM026, SSM089, SSM003, SSM086, SSM066, SSM006, SSM085, SSM081, SSM040, SSM072, SSM078, SSM022
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)esv2725260
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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