A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12576273



Internal ID3768646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:145140751..145142099hg38UCSC Ensembl
Innerchr6:145140751..145142099hg38UCSC Ensembl
Outerchr6:145140608..145142245hg38UCSC Ensembl
chr6:145461887..145463235hg19UCSC Ensembl
Innerchr6:145461887..145463235hg19UCSC Ensembl
Outerchr6:145461744..145463381hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg381349
hg191349
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611129
Supporting Variants
SamplesHG03401
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12576273
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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