A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4299008



Internal ID11581546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50349947..50350330hg38UCSC Ensembl
chr17:48427308..48427691hg19UCSC Ensembl
chr17:45782307..45782690hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38384
hg19384
hg18384
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1694921
Supporting Variants
SamplesHuRef
Known GenesXYLT2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4299008
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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