A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6697046



Internal ID9764853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109687566..109712085hg38UCSC Ensembl
Outerchr1:110230188..110254707hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3824520
hg1924520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716040
Supporting Variants
SamplesSSM038
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)essv6697046
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