A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715053



Internal ID9949338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88830850..88832024hg38UCSC Ensembl
Outerchr16:88897258..88898432hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg381175
hg191175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863103, essv6966774, essv6863102, essv6936832, essv6858130, essv6945636, essv6824231, essv6824233, essv6738297, essv6682150, essv6766111, essv6776280, essv6735564, essv6858129, essv6846417, essv6879917, essv6895193, essv6912185, essv6763751, essv6867905, essv6966773, essv6761383, essv6888491, essv6750077, essv6756002, essv6665664, essv6757042, essv6901074
SamplesSSM100, SSM027, SSM079, SSM087, SSM093, SSM050, SSM088, SSM002, SSM023, SSM058, SSM021, SSM061, SSM029, SSM096, SSM062, SSM089, SSM001, SSM033, SSM066, SSM085, SSM098, SSM049, SSM056, SSM063
Known GenesGALNS
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)esv2715053
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer