A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749995



Internal ID3297947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:88855197..88855944hg38UCSC Ensembl
Outerchr15:89398428..89399175hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945449, essv6665374, essv6690210, essv6713754, essv6673878
SamplesSSM006, SSM031, SSM005, SSM029, SSM023
Known GenesACAN
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)esv2749995
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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