A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12455989



Internal ID4448837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:86005799..86050831hg38UCSC Ensembl
Innerchr6:86005799..86050831hg38UCSC Ensembl
Outerchr6:86005299..86051331hg38UCSC Ensembl
chr6:86715517..86760549hg19UCSC Ensembl
Innerchr6:86715517..86760549hg19UCSC Ensembl
Outerchr6:86715017..86761049hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3845033
hg1945033
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609828
Supporting Variants
SamplesHG03953
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12455989
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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