A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743915



Internal ID9978199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1395996..1396540hg38UCSC Ensembl
Outerchr11:1417226..1417770hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38545
hg19545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6728148, essv6882172, essv6800007, essv6897502, essv6783369, essv6944699, essv6791662, essv6931631, essv6948874, essv6695350, essv6795836, essv6924142
SamplesSSM071, SSM024, SSM046, SSM023, SSM018, SSM094, SSM068, SSM072, SSM020, SSM037, SSM070, SSM099
Known GenesBRSK2
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)esv2743915
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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