A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3567502



Internal ID7038884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:835690..836089hg38UCSC Ensembl
chr17:738930..739329hg19UCSC Ensembl
chr17:685680..686079hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38400
hg19400
hg18400
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000293
Supporting Variants
SamplesHuRef
Known GenesNXN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3567502
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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