A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3582796



Internal ID7054178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:914148..914282hg38UCSC Ensembl
chr17:817388..817522hg19UCSC Ensembl
chr17:764138..764272hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38135
hg19135
hg18135
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv997618
Supporting Variants
SamplesHuRef
Known GenesNXN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3582796
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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