A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15743198



Internal ID5745014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76284607..76286026hg38UCSC Ensembl
Innerchr17:76284607..76286026hg38UCSC Ensembl
Outerchr17:76284376..76286308hg38UCSC Ensembl
chr17:74280688..74282107hg19UCSC Ensembl
Innerchr17:74280688..74282107hg19UCSC Ensembl
Outerchr17:74280457..74282389hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381420
hg191420
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641282
Supporting Variants
SamplesNA21122
Known GenesQRICH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15743198
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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