A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747224



Internal ID9981508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:30622285..30627230hg38UCSC Ensembl
Outerchr13:31196422..31201367hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg384946
hg194946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6809485
SamplesSSM075
Known GenesUSPL1
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)esv2747224
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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