A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749818



Internal ID10330788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:68691116..68691578hg38UCSC Ensembl
Outerchr15:68983455..68983917hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38463
hg19463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6738199, essv6752863, essv6735455, essv6741531, essv6820203, essv6911375, essv6942440, essv6966467, essv6761278, essv6744318, essv6758517, essv6665331, essv6749984, essv6755889, essv6775908, essv6809475, essv6747152, essv6766017, essv6763651, essv6936600, essv6741439, essv6668425, essv6713610, essv6913000, essv6747598, essv6837821
SamplesSSM059, SSM008, SSM027, SSM009, SSM050, SSM002, SSM057, SSM058, SSM021, SSM061, SSM029, SSM062, SSM003, SSM001, SSM006, SSM007, SSM015, SSM078, SSM053, SSM010, SSM055, SSM052, SSM049, SSM056, SSM030, SSM063
Known GenesCORO2B
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)esv2749818
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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