A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12328509



Internal ID754637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41953081..41954440hg38UCSC Ensembl
Innerchr6:41953115..41954407hg38UCSC Ensembl
Outerchr6:41953048..41954474hg38UCSC Ensembl
chr6:41920819..41922178hg19UCSC Ensembl
Innerchr6:41920853..41922145hg19UCSC Ensembl
Outerchr6:41920786..41922212hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381360
hg191360
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608793
Supporting Variants
SamplesHG00356
Known GenesCCND3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12328509
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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