A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724962



Internal ID10308598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:15272286..15272890hg38UCSC Ensembl
Outerchr3:15313793..15314397hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38605
hg19605
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6739286, essv6833060, essv6679671, essv6829482, essv6847851, essv6756888, essv6697359, essv6817194, essv6750991, essv6955649, essv6686569, essv6813614, essv6906656, essv6669812, essv6947023, essv6714752, essv6903010, essv6788899, essv6899025, essv6854032
SamplesSSM100, SSM059, SSM024, SSM087, SSM038, SSM013, SSM009, SSM057, SSM026, SSM035, SSM031, SSM014, SSM086, SSM033, SSM081, SSM082, SSM078, SSM077, SSM043, SSM052
Known GenesSH3BP5
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)esv2724962
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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