A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12565548



Internal ID3857952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:137710669..137726923hg38UCSC Ensembl
Innerchr6:137710819..137726773hg38UCSC Ensembl
Outerchr6:137710519..137727073hg38UCSC Ensembl
chr6:138031806..138048060hg19UCSC Ensembl
Innerchr6:138031956..138047910hg19UCSC Ensembl
Outerchr6:138031656..138048210hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3816255
hg1916255
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610945
Supporting Variants
SamplesHG03490
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12565548
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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