A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731718



Internal ID9966036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:5423425..5424852hg38UCSC Ensembl
Outerchr10:5465388..5466815hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg381428
hg191428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6677470, essv6952860
SamplesSSM032, SSM025
Known GenesNET1
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)esv2731718
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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