A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6785220



Internal ID9656573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91766448..91767744hg38UCSC Ensembl
Outerchr1:92232005..92233301hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381297
hg191297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714795, esv2714684
Supporting Variants
SamplesSSM009
Known GenesTGFBR3
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)essv6785220
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