A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6684766



Internal ID9752474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1214038..1214245hg38UCSC Ensembl
Outerchr10:1259978..1260185hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729585, esv2729607
Supporting Variants
SamplesSSM034
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)essv6684766
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