A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730049



Internal ID9964365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:33688276..33688437hg38UCSC Ensembl
Outerchr5:33688381..33688542hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690217, essv6711624
SamplesSSM036, SSM042
Known GenesADAMTS12
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)esv2730049
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer