A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6976423



Internal ID10081689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1009847..1011600hg38UCSC Ensembl
Outerchr10:1055787..1057540hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381754
hg191754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729251
Supporting Variants
SamplesSSM029
Known GenesGTPBP4
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)essv6976423
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