A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4301527



Internal ID11584065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82975385..82975813hg38UCSC Ensembl
chr17:80933261..80933689hg19UCSC Ensembl
chr17:78526550..78526978hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38429
hg19429
hg18429
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1777160
Supporting Variants
SamplesHuRef
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4301527
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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