A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994258



Internal ID6730213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41244517..41254393hg38UCSC Ensembl
Outerchr17:39400769..39410645hg19UCSC Ensembl
Outerchr17:36654295..36664171hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg389877
hg199877
hg189877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564432
SamplesHuRef
Known GenesKRTAP9-4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994258
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer