A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6939954



Internal ID9700753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3115087..3115670hg38UCSC Ensembl
Outerchr10:3157279..3157862hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38584
hg19584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731184, esv2731228, esv2730995, esv2731206
Supporting Variants
SamplesSSM022
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)essv6939954
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