A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008813



Internal ID7073676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:75376170..75388414hg38UCSC Ensembl
Outerchr1:75841855..75854099hg19UCSC Ensembl
Outerchr1:75614443..75626687hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3812245
hg1912245
hg1812245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564309
SamplesHuRef
Known GenesSLC44A5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008813
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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