A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15695059



Internal ID2820547
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640752
Supporting Variants
SamplesHG02490
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15695059
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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