A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12174449



Internal ID3237138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1324938..1333661hg38UCSC Ensembl
Innerchr6:1324948..1333652hg38UCSC Ensembl
Outerchr6:1324929..1333671hg38UCSC Ensembl
chr6:1325173..1333896hg19UCSC Ensembl
Innerchr6:1325183..1333887hg19UCSC Ensembl
Outerchr6:1325164..1333906hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg388724
hg198724
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607891
Supporting Variants
SamplesHG02852
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12174449
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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