A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677036



Internal ID9943141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:17494305..17495414hg38UCSC Ensembl
Outerchr19:17494140..17495577hg38UCSC Ensembl
Innerchr19:17605114..17606223hg19UCSC Ensembl
Outerchr19:17604949..17606386hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381438
hg191438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6185633, essv5458161, essv6399674
SamplesNA18498, NA19908, NA19213
Known GenesSLC27A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677036
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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