A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12190050



Internal ID1622823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12831375..12837680hg38UCSC Ensembl
Innerchr6:12831382..12837674hg38UCSC Ensembl
Outerchr6:12831369..12837687hg38UCSC Ensembl
chr6:12831607..12837912hg19UCSC Ensembl
Innerchr6:12831614..12837906hg19UCSC Ensembl
Outerchr6:12831601..12837919hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg386306
hg196306
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608118
Supporting Variants
SamplesHG01501
Known GenesPHACTR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12190050
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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