A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12430768



Internal ID5498678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:76107127..76115227hg38UCSC Ensembl
Innerchr6:76107127..76115227hg38UCSC Ensembl
Outerchr6:76106627..76115727hg38UCSC Ensembl
chr6:76816844..76824944hg19UCSC Ensembl
Innerchr6:76816844..76824944hg19UCSC Ensembl
Outerchr6:76816344..76825444hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg388101
hg198101
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609593
Supporting Variants
SamplesNA18984
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12430768
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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