A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724830



Internal ID5072120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:4848525..4849194hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6825538, essv6926115, essv6929633, essv6881231, essv6922274, essv6700178, essv6973326, essv6789689, essv6903003, essv6722484, essv6968503, essv6821671, essv6954306, essv6798000, essv6947015, essv6951086, essv6753198, essv6669795, essv6942391, essv6693348, 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
Method
Analysis
PlatformIllumina HiSeq2000
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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