A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864214



Internal ID9914589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246395619..246395691hg38UCSC Ensembl
Outerchr1:246558921..246558993hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727351, esv2727340
Supporting Variants
SamplesSSM089
Known GenesSMYD3
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)essv6864214
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