A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12547433



Internal ID6943811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130524274..130533356hg38UCSC Ensembl
Innerchr6:130524317..130533314hg38UCSC Ensembl
Outerchr6:130524232..130533399hg38UCSC Ensembl
chr6:130845419..130854501hg19UCSC Ensembl
Innerchr6:130845462..130854459hg19UCSC Ensembl
Outerchr6:130845377..130854544hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg389083
hg199083
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610790
Supporting Variants
SamplesNA21127
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12547433
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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