A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15693170



Internal ID2852978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48980948..48986636hg38UCSC Ensembl
Innerchr17:48980979..48986605hg38UCSC Ensembl
Outerchr17:48980917..48986667hg38UCSC Ensembl
chr17:47058310..47063998hg19UCSC Ensembl
Innerchr17:47058341..47063967hg19UCSC Ensembl
Outerchr17:47058279..47064029hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg385689
hg195689
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640730
Supporting Variants
SamplesHG02521
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15693170
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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