A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740653



Internal ID9974996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11679860..11701857hg38UCSC Ensembl
OuterchrY:13800566..13822563hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg3821998
hg1921998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6946896, essv6917033, essv6696622, essv6917032, essv6967353, essv6946885, essv6674692, essv6925270, essv6696611, essv6820792, essv6846661, essv6950104, essv6780654, essv6921252, essv6696600, essv6917045, essv6871407, essv6871426, essv6967352, essv6807091, essv6780643, essv6832222, essv6780621, essv6780427, essv6756259, essv6946930, essv6696601, essv6744663, essv6747502, essv6843444, essv6967355, essv6917034, essv6946907, essv6835795, essv6747503, essv6950100, essv6917031, essv6868321, essv6946941, essv6780632, essv6946918, essv6925275, essv6888719
SamplesSSM008, SSM027, SSM024, SSM074, SSM058, SSM084, SSM090, SSM018, SSM096, SSM089, SSM017, SSM003, SSM031, SSM067, SSM085, SSM081, SSM082, SSM078, SSM016, SSM053, SSM037, SSM055
Known Genes
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)esv2740653
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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