A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15730589



Internal ID6486516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68728980..68731226hg38UCSC Ensembl
Innerchr17:68728987..68731219hg38UCSC Ensembl
Outerchr17:68728973..68731233hg38UCSC Ensembl
chr17:66725121..66727367hg19UCSC Ensembl
Innerchr17:66725128..66727360hg19UCSC Ensembl
Outerchr17:66725114..66727374hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg382247
hg192247
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641118
Supporting Variants
SamplesNA20528
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15730589
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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