A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14345878



Internal ID4614783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6171097..6176622hg38UCSC Ensembl
Innerchr12:6171154..6176565hg38UCSC Ensembl
Outerchr12:6171040..6176679hg38UCSC Ensembl
chr12:6280263..6285788hg19UCSC Ensembl
Innerchr12:6280320..6285731hg19UCSC Ensembl
Outerchr12:6280206..6285845hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385526
hg195526
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628399
Supporting Variants
SamplesHG04152
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14345878
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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