A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749878



Internal ID10330848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:73871861..73872055hg38UCSC Ensembl
Outerchr15:74164202..74164396hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6909295, essv6891637, essv6862915, essv6828129, essv6966482, essv6820215, essv6857886, essv6665345, essv6673861
SamplesSSM027, SSM087, SSM097, SSM088, SSM029, SSM031, SSM014, SSM078, SSM080
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)esv2749878
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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