A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3159345



Internal ID11179011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:21417965..21419305hg38UCSC Ensembl
Outerchr17:21321277..21322617hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381341
hg191341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7428912
SamplesHuRef
Known GenesKCNJ12
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3159345
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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