A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725528



Internal ID10309164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:76438614..76439660hg38UCSC Ensembl
Outerchr3:76487765..76488811hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg381047
hg191047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6968578, essv6745351, essv6840536, essv6733858, essv6820833, essv6766960, essv6903062, essv6926177, essv6723055, essv6679732, essv6954895, essv6854121, essv6951161, essv6756915, essv6918028, essv6764541, essv6817271, essv6903151, essv6836717, essv6753947, essv6875140, essv6955759, essv6896246, essv6730166, essv6789299, essv6922345, essv6962489, essv6736422, essv6914459, essv6714810, essv6751037, essv6770114
SamplesSSM059, SSM083, SSM027, SSM064, SSM065, SSM087, SSM013, SSM009, SSM050, SSM057, SSM058, SSM028, SSM092, SSM084, SSM047, SSM018, SSM026, SSM017, SSM019, SSM001, SSM033, SSM007, SSM078, SSM016, SSM010, SSM055, SSM025, SSM004, SSM099, SSM043, SSM049, SSM063
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)esv2725528
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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