A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12337721



Internal ID6376204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45825035..45836044hg38UCSC Ensembl
Innerchr6:45825054..45836025hg38UCSC Ensembl
Outerchr6:45825016..45836063hg38UCSC Ensembl
chr6:45792772..45803781hg19UCSC Ensembl
Innerchr6:45792791..45803762hg19UCSC Ensembl
Outerchr6:45792753..45803800hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3811010
hg1911010
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608866
Supporting Variants
SamplesNA20318
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12337721
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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