A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6902717



Internal ID9667843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:230198246..230198694hg38UCSC Ensembl
Outerchr1:230333992..230334440hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724584
Supporting Variants
SamplesSSM013
Known GenesGALNT2
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)essv6902717
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