A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554778



Internal ID18409168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:74787298..74787398hg38UCSC Ensembl
Outerchr17:74787297..74787399hg38UCSC Ensembl
Innerchr17:72783437..72783537hg19UCSC Ensembl
Outerchr17:72783436..72783538hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753525
Samples
Known GenesTMEM104
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554778
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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