A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12190880



Internal ID4638702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13335491..13336988hg38UCSC Ensembl
Innerchr6:13335491..13336988hg38UCSC Ensembl
Outerchr6:13335217..13337224hg38UCSC Ensembl
chr6:13335723..13337220hg19UCSC Ensembl
Innerchr6:13335723..13337220hg19UCSC Ensembl
Outerchr6:13335449..13337456hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg381498
hg191498
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608123
Supporting Variants
SamplesHG04171
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12190880
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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