A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12238184



Internal ID6687176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27557941..27567698hg38UCSC Ensembl
Innerchr6:27557965..27567674hg38UCSC Ensembl
Outerchr6:27557917..27567722hg38UCSC Ensembl
chr6:27525720..27535477hg19UCSC Ensembl
Innerchr6:27525744..27535453hg19UCSC Ensembl
Outerchr6:27525696..27535501hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg389758
hg199758
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608432
Supporting Variants
SamplesNA20818
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12238184
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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