A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640754



Internal ID7027528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50818938..50820810hg38UCSC Ensembl
Innerchr17:50818938..50820810hg38UCSC Ensembl
Outerchr17:50818766..50820978hg38UCSC Ensembl
chr17:48896299..48898171hg19UCSC Ensembl
Innerchr17:48896299..48898171hg19UCSC Ensembl
Outerchr17:48896127..48898339hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381873
hg191873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15695193
SamplesNA19009
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640754
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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