A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12326797



Internal ID3408089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40466193..40467176hg38UCSC Ensembl
Innerchr6:40466238..40467132hg38UCSC Ensembl
Outerchr6:40466149..40467221hg38UCSC Ensembl
chr6:40433932..40434915hg19UCSC Ensembl
Innerchr6:40433977..40434871hg19UCSC Ensembl
Outerchr6:40433888..40434960hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38984
hg19984
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608774
Supporting Variants
SamplesHG03054
Known GenesLRFN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12326797
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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