A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15740510



Internal ID5742326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75076931..75083469hg38UCSC Ensembl
Innerchr17:75076931..75083469hg38UCSC Ensembl
Outerchr17:75076431..75083969hg38UCSC Ensembl
chr17:73073026..73079564hg19UCSC Ensembl
Innerchr17:73073026..73079564hg19UCSC Ensembl
Outerchr17:73072526..73080064hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg386539
hg196539
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641256
Supporting Variants
SamplesNA19399
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15740510
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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