A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12344068



Internal ID6817020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:48951962..48959505hg38UCSC Ensembl
Innerchr6:48951992..48959476hg38UCSC Ensembl
Outerchr6:48951933..48959535hg38UCSC Ensembl
chr6:48919599..48927142hg19UCSC Ensembl
Innerchr6:48919629..48927113hg19UCSC Ensembl
Outerchr6:48919570..48927172hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg387544
hg197544
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608930
Supporting Variants
SamplesNA20897
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12344068
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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