A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640752



Internal ID7027526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50487793..50495842hg38UCSC Ensembl
Innerchr17:50487826..50495810hg38UCSC Ensembl
Outerchr17:50487761..50495875hg38UCSC Ensembl
chr17:48565154..48573203hg19UCSC Ensembl
Innerchr17:48565187..48573171hg19UCSC Ensembl
Outerchr17:48565122..48573236hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg388050
hg198050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15695059
SamplesHG02490
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640752
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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