A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12450960



Internal ID4645906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:81037630..81056079hg38UCSC Ensembl
Innerchr6:81037634..81056076hg38UCSC Ensembl
Outerchr6:81037627..81056083hg38UCSC Ensembl
chr6:81747347..81765796hg19UCSC Ensembl
Innerchr6:81747351..81765793hg19UCSC Ensembl
Outerchr6:81747344..81765800hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3818450
hg1918450
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609729
Supporting Variants
SamplesHG04177
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12450960
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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