A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6887724



Internal ID9935923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3115107..3115636hg38UCSC Ensembl
Outerchr10:3157299..3157828hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731184, esv2731228, esv2730995, esv2731206, esv2731251
Supporting Variants
SamplesSSM096
Known GenesPFKP
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)essv6887724
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