A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726295



Internal ID10309931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184158885..184159587hg38UCSC Ensembl
Outerchr3:183876673..183877375hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6679806, essv6962614, essv6770185, essv6909373, essv6804946, essv6860008, essv6723809, essv6754632, essv6667216, essv6821432, essv6955890, essv6914525, essv6883739, essv6748266, essv6733917, essv6774051, essv6767015, essv6841264, essv6736486, essv6745417, essv6840604, essv6754022, essv6742628, essv6903131, essv6947159, essv6875211, essv6817384, essv6789977, essv6751106, essv6759549, essv6802102
SamplesSSM008, SSM027, SSM024, SSM064, SSM065, SSM013, SSM009, SSM073, SSM050, SSM074, SSM088, SSM002, SSM057, SSM058, SSM092, SSM084, SSM061, SSM026, SSM001, SSM033, SSM066, SSM007, SSM078, SSM016, SSM053, SSM010, SSM055, SSM095, SSM049, SSM056, SSM030
Known GenesDVL3
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)esv2726295
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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