A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6803227



Internal ID9859567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1592405..1593244hg38UCSC Ensembl
Outerchr10:1634600..1635439hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38840
hg19840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730217, esv2730239
Supporting Variants
SamplesSSM073
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)essv6803227
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