A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12430206



Internal ID6325624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75000657..75017728hg38UCSC Ensembl
Innerchr6:75001157..75017228hg38UCSC Ensembl
Outerchr6:74999657..75018728hg38UCSC Ensembl
chr6:75710373..75727444hg19UCSC Ensembl
Innerchr6:75710873..75726944hg19UCSC Ensembl
Outerchr6:75709373..75728444hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3817072
hg1917072
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609566
Supporting Variants
SamplesNA19921
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12430206
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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