A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12174447



Internal ID3969741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1244346..1282278hg38UCSC Ensembl
Innerchr6:1244357..1282268hg38UCSC Ensembl
Outerchr6:1244336..1282289hg38UCSC Ensembl
chr6:1244581..1282513hg19UCSC Ensembl
Innerchr6:1244592..1282503hg19UCSC Ensembl
Outerchr6:1244571..1282524hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3837933
hg1937933
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607889
Supporting Variants
SamplesHG03624
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12174447
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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