A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641104



Internal ID7027878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67948996..67950830hg38UCSC Ensembl
Innerchr17:67948996..67950830hg38UCSC Ensembl
Outerchr17:67948813..67950995hg38UCSC Ensembl
chr17:65945112..65946946hg19UCSC Ensembl
Innerchr17:65945112..65946946hg19UCSC Ensembl
Outerchr17:65944929..65947111hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg381835
hg191835
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15728032, essv15728033
SamplesNA19917, NA18987
Known GenesBPTF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641104
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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