A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747828



Internal ID10328798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:93230687..93232046hg38UCSC Ensembl
Outerchr13:93882940..93884299hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg381360
hg191360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6901099, essv6765878, essv6749825, essv6977591, essv6819942, essv6792040, essv6879621, essv6741254, essv6867510, essv6774075, essv6909078, essv6688499, essv6836253, essv6775876, essv6738040, essv6959592, essv6966116, essv6758357, essv6695767, essv6842637, essv6755727
SamplesSSM059, SSM008, SSM027, SSM011, SSM093, SSM050, SSM058, SSM084, SSM029, SSM026, SSM014, SSM066, SSM078, SSM005, SSM037, SSM010, SSM070, SSM052, SSM056, SSM063, SSM012
Known GenesGPC6
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)esv2747828
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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