A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743313



Internal ID9977597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1541755..1542939hg38UCSC Ensembl
Outerchr10:1583950..1585134hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381185
hg191185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv78e201
Supporting Variantsessv6968329
SamplesSSM004
Known GenesADARB2, ADARB2-AS1
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)esv2743313
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