A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749724



Internal ID10330694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:55363280..55364897hg38UCSC Ensembl
Outerchr15:55655478..55657095hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg381618
hg191618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945416, essv6876990, essv6783979, essv6828114, essv6688609, essv6758507, essv6673828, essv6885347, essv6749974, essv6741453, essv6779863, essv6695995, essv6746820, essv6824034, essv6940761, essv6681950, essv6768812, essv6911286, essv6966447, essv6747145, essv6835257, essv6851854, essv6871041
SamplesSSM059, SSM027, SSM064, SSM079, SSM002, SSM023, SSM092, SSM090, SSM035, SSM031, SSM067, SSM001, SSM086, SSM033, SSM068, SSM082, SSM007, SSM080, SSM037, SSM022, SSM055, SSM095, SSM056
Known GenesCCPG1, DYX1C1-CCPG1
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)esv2749724
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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