A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15758330



Internal ID2726046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80401618..80403991hg38UCSC Ensembl
Innerchr17:80401620..80403989hg38UCSC Ensembl
Outerchr17:80401616..80403993hg38UCSC Ensembl
chr17:78375418..78377791hg19UCSC Ensembl
Innerchr17:78375420..78377789hg19UCSC Ensembl
Outerchr17:78375416..78377793hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382374
hg192374
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641375
Supporting Variants
SamplesHG02398
Known GenesLOC100294362
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15758330
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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