A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608138



Internal ID6995068
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12195947, essv12195944, essv12195948, essv12195949, essv12195952, essv12195951, essv12195950, essv12195945, essv12195953, essv12195946, essv12195943
SamplesNA19066, HG02888, NA20287, NA19320, HG03391, HG03567, HG02557, NA19835, HG03473, NA20281, HG03072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608138
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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