A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940056



Internal ID10047578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:117126320..117126916hg38UCSC Ensembl
Outerchr10:118885831..118886427hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38597
hg19597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741317
Supporting Variants
SamplesSSM022
Known GenesKIAA1598
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)essv6940056
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