A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12407017



Internal ID2408833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:68654771..68706803hg38UCSC Ensembl
Innerchr6:68654771..68706803hg38UCSC Ensembl
Outerchr6:68654271..68707303hg38UCSC Ensembl
chr6:69364663..69416695hg19UCSC Ensembl
Innerchr6:69364663..69416695hg19UCSC Ensembl
Outerchr6:69364163..69417195hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3852033
hg1952033
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609387
Supporting Variants
SamplesNA11843
Known GenesBAI3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12407017
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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