A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747165



Internal ID9981449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:25115346..25115529hg38UCSC Ensembl
Outerchr13:25689484..25689667hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673352, essv6940480, essv6857412, essv6768604, essv6966004, essv6851404
SamplesSSM027, SSM064, SSM087, SSM031, SSM086, 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)esv2747165
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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