A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007487



Internal ID7072581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:21078675..21082400hg38UCSC Ensembl
Outerchr17:20981988..20985713hg19UCSC Ensembl
Outerchr17:20922580..20926305hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383297
hg193297
hg183297
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565637
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007487
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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