A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744731



Internal ID10325701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70950937..70951890hg38UCSC Ensembl
Outerchr11:70797044..70798034hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38954
hg19991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6834790, essv6857039, essv6904820, essv6862258, essv6755458, essv6864831, essv6936019, essv6684988, essv6908754, essv6672980, essv6965620, essv6706116
SamplesSSM027, SSM011, SSM087, SSM013, SSM088, SSM058, SSM021, SSM031, SSM014, SSM040, SSM082, SSM034
Known GenesSHANK2
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)esv2744731
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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