A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564756



Internal ID6689452
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010187
Supporting Variants
SamplesHuRef
Known GenesAPPBP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564756
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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