A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6695214



Internal ID9761902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46295453..46295637hg38UCSC Ensembl
Outerchr10:47666689..47666873hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736351, esv2736163, esv2736363
Supporting Variants
SamplesSSM037
Known GenesANTXRL
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)essv6695214
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