A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6850619



Internal ID10249039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:7207401..7207525hg38UCSC Ensembl
Outerchr10:7249363..7249487hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732217
Supporting Variants
SamplesSSM086
Known GenesSFMBT2
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)essv6850619
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