A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640337



Internal ID7027112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30186897..30193051hg38UCSC Ensembl
Innerchr17:30186897..30193051hg38UCSC Ensembl
Outerchr17:30186783..30193166hg38UCSC Ensembl
chr17:28513915..28520069hg19UCSC Ensembl
Innerchr17:28513915..28520069hg19UCSC Ensembl
Outerchr17:28513801..28520184hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg386155
hg196155
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15657279
SamplesHG02348
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640337
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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