A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4080134



Internal ID11681741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67956156..67956801hg38UCSC Ensembl
chr17:65952272..65952917hg19UCSC Ensembl
chr17:63382734..63383379hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38646
hg19646
hg18646
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1429192
Supporting Variants
SamplesHuRef
Known GenesBPTF
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4080134
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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