A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15674486



Internal ID1829374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40426046..40433227hg38UCSC Ensembl
Innerchr17:40426046..40433227hg38UCSC Ensembl
Outerchr17:40425777..40433515hg38UCSC Ensembl
chr17:38582298..38589479hg19UCSC Ensembl
Innerchr17:38582298..38589479hg19UCSC Ensembl
Outerchr17:38582029..38589767hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg387182
hg197182
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640554
Supporting Variants
SamplesHG01700
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15674486
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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