A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003982



Internal ID6716108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109672531..109717528hg38UCSC Ensembl
Outerchr1:110215153..110260150hg19UCSC Ensembl
Outerchr1:110016676..110061673hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3844998
hg1944998
hg1844998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564905
SamplesHuRef
Known GenesGSTM1, GSTM2, GSTM5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003982
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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