A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010187



Internal ID6722277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60452133..60455730hg38UCSC Ensembl
Outerchr17:58529494..58533091hg19UCSC Ensembl
Outerchr17:55884276..55887873hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg383641
hg193641
hg183641
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564756
SamplesHuRef
Known GenesAPPBP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010187
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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