A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004030



Internal ID6716156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1566596..1574887hg38UCSC Ensembl
Outerchr17:1469890..1478181hg19UCSC Ensembl
Outerchr17:1416640..1424931hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg388292
hg198292
hg188292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564607
SamplesHuRef
Known GenesSLC43A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004030
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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