A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12195943



Internal ID2881679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13847435..13856754hg38UCSC Ensembl
Innerchr6:13847439..13856750hg38UCSC Ensembl
Outerchr6:13847431..13856758hg38UCSC Ensembl
chr6:13847666..13856985hg19UCSC Ensembl
Innerchr6:13847670..13856981hg19UCSC Ensembl
Outerchr6:13847662..13856989hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg389320
hg199320
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608138
Supporting Variants
SamplesHG02557
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12195943
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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