A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15680720



Internal ID6886452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44566530..44574207hg38UCSC Ensembl
Innerchr17:44566557..44574180hg38UCSC Ensembl
Outerchr17:44566503..44574234hg38UCSC Ensembl
chr17:42643898..42651575hg19UCSC Ensembl
Innerchr17:42643925..42651548hg19UCSC Ensembl
Outerchr17:42643871..42651602hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg387678
hg197678
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640647
Supporting Variants
SamplesNA21104
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15680720
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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