A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749902



Internal ID9984186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:77551948..77552480hg38UCSC Ensembl
Outerchr15:77844290..77844822hg19UCSC Ensembl
Cytoband15q24.3
Allele length
AssemblyAllele length
hg38533
hg19533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6932308, essv6924773, essv6905311, essv6940776, essv6857891
SamplesSSM087, SSM013, SSM018, SSM020, SSM022
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)esv2749902
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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