A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12199764



Internal ID1982558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:14818772..14820351hg38UCSC Ensembl
Innerchr6:14818830..14820293hg38UCSC Ensembl
Outerchr6:14818714..14820409hg38UCSC Ensembl
chr6:14819003..14820582hg19UCSC Ensembl
Innerchr6:14819061..14820524hg19UCSC Ensembl
Outerchr6:14818945..14820640hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg381580
hg191580
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608154
Supporting Variants
SamplesHG01844
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12199764
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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