A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15722021



Internal ID974892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63596268..63599555hg38UCSC Ensembl
Innerchr17:63596294..63599529hg38UCSC Ensembl
Outerchr17:63596242..63599581hg38UCSC Ensembl
chr17:61673627..61676914hg19UCSC Ensembl
Innerchr17:61673653..61676888hg19UCSC Ensembl
Outerchr17:61673601..61676940hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg383288
hg193288
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641000
Supporting Variants
SamplesHG00599
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15722021
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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