A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9753144



Internal ID18727390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39035659..39037644hg38UCSC Ensembl
Outerchr17:39035597..39038126hg38UCSC Ensembl
Innerchr17:37191912..37193897hg19UCSC Ensembl
Outerchr17:37191850..37194379hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382530
hg192530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3554397
Supporting Variants
Samples
Known GenesLRRC37A11P
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9753144
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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