A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724830



Internal ID9959132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:4806841..4807510hg38UCSC Ensembl
Outerchr3:4848525..4849194hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38670
hg19670
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825538, essv6926115, essv6929633, essv6881231, essv6922274, essv6700178, essv6973326, essv6789689, essv6903003, essv6722484, essv6968503, essv6821671, essv6954306, essv6798000, essv6947015, essv6951086, essv6753198, essv6669795, essv6693348, essv6942391, essv6777442, essv6938184, essv6730096, essv6840472, essv6886345, essv6804808, essv6917957, essv6781420
SamplesSSM022, SSM013, SSM084, SSM031, SSM025, SSM072, SSM020, SSM039, SSM024, SSM045, SSM067, SSM012, SSM017, SSM028, SSM029, SSM047, SSM037, SSM019, SSM096, SSM023, SSM079, SSM068, SSM074, SSM004, SSM008, SSM018, SSM070, SSM080
Known GenesITPR1
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)esv2724830
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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