A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15734820



Internal ID5736636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:71846477..71850783hg38UCSC Ensembl
Innerchr17:71846484..71850777hg38UCSC Ensembl
Outerchr17:71846471..71850790hg38UCSC Ensembl
chr17:69842618..69846924hg19UCSC Ensembl
Innerchr17:69842625..69846918hg19UCSC Ensembl
Outerchr17:69842612..69846931hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg384307
hg194307
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641181
Supporting Variants
SamplesNA19324
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15734820
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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