A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3798602



Internal ID11963269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83026627..83026627hg38UCSC Ensembl
chr17:80984503..80984503hg19UCSC Ensembl
chr17:78577792..78577792hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38475
hg19475
hg18475
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1787320
Supporting Variants
SamplesHuRef
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3798602
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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