A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744722



Internal ID10325692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70739843..70740411hg38UCSC Ensembl
Outerchr11:70585948..70586516hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38569
hg19569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6924223, essv6976967, essv6804832, essv6834788, essv6908753, essv6803418, essv6944817, essv6898387, essv6927837, essv6912492, essv6728233, essv6688198, essv6970691, essv6948977, essv6842332, essv6716693, essv6681479, essv6940222, essv6695444, essv6779355, essv6732026, essv6876571, essv6953113, essv6959104, essv6795924, essv6831214, essv6827603, essv6691506, essv6712894, essv6791756, essv6931723, essv6845878
SamplesSSM036, SSM071, SSM024, SSM046, SSM009, SSM073, SSM042, SSM023, SSM028, SSM092, SSM084, SSM047, SSM018, SSM029, SSM026, SSM019, SSM035, SSM067, SSM014, SSM033, SSM085, SSM081, SSM082, SSM020, SSM015, SSM080, SSM037, SSM022, SSM070, SSM025, SSM043, SSM012
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)esv2744722
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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