A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731818



Internal ID10315454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:5648228..5648586hg38UCSC Ensembl
Outerchr10:5690191..5690549hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695161, essv6923953, essv6724158, essv6866686, essv6783181, essv6791489
SamplesSSM045, SSM018, SSM089, SSM068, SSM037, SSM070
Known GenesASB13
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)esv2731818
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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