A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3646721



Internal ID12115147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82976443..82976504hg38UCSC Ensembl
chr17:80934319..80934380hg19UCSC Ensembl
chr17:78527608..78527669hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1627319
Supporting Variants
SamplesHuRef
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3646721
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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