A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3863629



Internal ID11898242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58020028..58020028hg38UCSC Ensembl
chr17:56097389..56097389hg19UCSC Ensembl
chr17:53452388..53452388hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1175910
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3863629
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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