A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750034



Internal ID9984318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:91903686..91904251hg38UCSC Ensembl
Outerchr15:92446916..92447481hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38566
hg19566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696025, essv6792296, essv6673883, essv6851914, essv6828145, essv6665382, essv6960023, essv6800680, essv6953705, essv6681979
SamplesSSM029, SSM026, SSM031, SSM086, SSM033, SSM072, SSM080, SSM037, SSM070, SSM025
Known GenesSLCO3A1
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)esv2750034
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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