A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735606



Internal ID10319242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:37982716..37983269hg38UCSC Ensembl
Outerchr10:38271644..38272197hg19UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg38554
hg19554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6976556, essv6944554, essv6856692, essv6819305, essv6919826
SamplesSSM087, SSM023, SSM029, SSM017, SSM078
Known Genes
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)esv2735606
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