A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15614706



Internal ID3136576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:13357245..13359588hg38UCSC Ensembl
Innerchr17:13357253..13359581hg38UCSC Ensembl
Outerchr17:13357238..13359596hg38UCSC Ensembl
chr17:13260562..13262905hg19UCSC Ensembl
Innerchr17:13260570..13262898hg19UCSC Ensembl
Outerchr17:13260555..13262913hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg382344
hg192344
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639989
Supporting Variants
SamplesHG02763
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15614706
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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