A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6917607



Internal ID9986792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:153070701..153093704hg38UCSC Ensembl
Outerchr1:153043177..153066180hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3823004
hg1923004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718239
Supporting Variants
SamplesSSM003
Known GenesSPRR2B, SPRR2E
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)essv6917607
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