A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744134



Internal ID9978418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:16132044..16132586hg38UCSC Ensembl
Outerchr11:16153590..16154132hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6728167, essv6958996, essv6856935, essv6850905, essv6870588, essv6737761, essv6862177, essv6771910, essv6969818, essv6864209, essv6755406, essv6887870, essv6965504
SamplesSSM065, SSM027, SSM086, SSM088, SSM090, SSM050, SSM011, SSM087, SSM046, SSM096, SSM004, SSM026, SSM058
Known GenesSOX6
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)esv2744134
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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