A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12326802



Internal ID3408111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40466406..40468713hg38UCSC Ensembl
Innerchr6:40466406..40468713hg38UCSC Ensembl
Outerchr6:40466174..40468940hg38UCSC Ensembl
chr6:40434145..40436452hg19UCSC Ensembl
Innerchr6:40434145..40436452hg19UCSC Ensembl
Outerchr6:40433913..40436679hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg382308
hg192308
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608775
Supporting Variants
SamplesHG03054
Known GenesLRFN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12326802
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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