A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749820



Internal ID10330790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:68757196..68757558hg38UCSC Ensembl
Outerchr15:69049535..69049897hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862903, essv6897951, essv6688621, essv6879786, essv6851876, essv6665332, essv6809714, essv6909284, essv6971273, essv6709841, essv6835270, essv6857873, essv6867695, essv6920652, essv6815814, essv6717213, essv6839035, essv6885358, essv6678242, essv6696006, essv6842876, essv6779873, essv6824047, essv6796445, essv6828124, essv6685449, essv6783990, essv6788187, essv6820204, essv6905300, essv6966468, essv6728706, essv6806699, essv6741440, essv6702871, essv6800651, essv6924766, essv6869475
SamplesSSM083, SSM071, SSM027, SSM075, SSM046, SSM011, SSM079, SSM087, SSM039, SSM013, SSM093, SSM074, SSM088, SSM041, SSM028, SSM084, SSM018, SSM069, SSM029, SSM089, SSM017, SSM035, SSM032, SSM067, SSM014, SSM086, SSM068, SSM072, SSM082, SSM078, SSM080, SSM037, SSM077, SSM095, SSM034, SSM099, SSM043, SSM052
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)esv2749820
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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