A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6946569



Internal ID9710708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109687554..109712097hg38UCSC Ensembl
Outerchr1:110230176..110254719hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3824544
hg1924544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716040
Supporting Variants
SamplesSSM024
Known GenesGSTM1
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)essv6946569
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