A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3638046



Internal ID12123822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:510277..510277hg38UCSC Ensembl
chr17:413517..413517hg19UCSC Ensembl
chr17:360267..360267hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3899
hg1999
hg1899
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1753121
Supporting Variants
SamplesHuRef
Known GenesVPS53
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3638046
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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