A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12190035



Internal ID4646783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12514386..12515943hg38UCSC Ensembl
Innerchr6:12514386..12515943hg38UCSC Ensembl
Outerchr6:12514137..12516201hg38UCSC Ensembl
chr6:12514618..12516175hg19UCSC Ensembl
Innerchr6:12514618..12516175hg19UCSC Ensembl
Outerchr6:12514369..12516433hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg381558
hg191558
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608113
Supporting Variants
SamplesHG04177
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12190035
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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