A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12552761



Internal ID957906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131328617..131339178hg38UCSC Ensembl
Innerchr6:131329117..131338678hg38UCSC Ensembl
Outerchr6:131327617..131340178hg38UCSC Ensembl
chr6:131649757..131660318hg19UCSC Ensembl
Innerchr6:131650257..131659818hg19UCSC Ensembl
Outerchr6:131648757..131661318hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3810562
hg1910562
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610811
Supporting Variants
SamplesHG00590
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12552761
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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