A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554262



Internal ID18755338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21418260..21419488hg38UCSC Ensembl
Outerchr17:21417949..21419734hg38UCSC Ensembl
Innerchr17:21321572..21322800hg19UCSC Ensembl
Outerchr17:21321261..21323046hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381786
hg191786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753009
Samples
Known GenesKCNJ12
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554262
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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