A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729518



Internal ID9963833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1189764..1189918hg38UCSC Ensembl
Outerchr10:1235704..1235858hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6702046, essv6958612, essv6672538, essv6904560, essv6965157
SamplesSSM027, SSM013, SSM031, SSM039, SSM026
Known GenesADARB2
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)esv2729518
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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