A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726258



Internal ID10309894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:179900776..179901478hg38UCSC Ensembl
Outerchr3:179618564..179619266hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6722634, essv6767011, essv6726473, essv6825700, essv6942577, essv6770180, essv6730243, essv6704413, essv6793997, essv6968653, essv6903126, essv6973608, essv6745412, essv6938334, essv6854250, essv6670037, essv6804942, essv6962610, essv6947155, essv6929768, essv6918098, essv6955882, essv6714890, essv6829599, essv6739402, essv6922397, essv6774047, essv6777553, essv6785713, essv6922443, essv6754610, essv6675856, essv6951245, essv6693503, essv6700358, essv6679800
SamplesSSM008, SSM071, SSM027, SSM024, SSM045, SSM046, SSM064, SSM065, SSM087, SSM039, SSM013, SSM074, SSM023, SSM028, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM032, SSM003, SSM031, SSM067, SSM033, SSM066, SSM081, SSM040, SSM020, SSM080, SSM037, SSM022, SSM055, SSM025, SSM043, SSM052
Known GenesPEX5L
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)esv2726258
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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