A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641043



Internal ID7027817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65624143..65673195hg38UCSC Ensembl
Innerchr17:65624143..65673195hg38UCSC Ensembl
Outerchr17:65623643..65673695hg38UCSC Ensembl
chr17:63620261..63669313hg19UCSC Ensembl
Innerchr17:63620261..63669313hg19UCSC Ensembl
Outerchr17:63619761..63669813hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3849053
hg1949053
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15724992
SamplesHG03736
Known GenesCEP112
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641043
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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