A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12459741



Internal ID6146943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:89796810..89800195hg38UCSC Ensembl
Innerchr6:89796810..89800195hg38UCSC Ensembl
Outerchr6:89796582..89800453hg38UCSC Ensembl
chr6:90506529..90509914hg19UCSC Ensembl
Innerchr6:90506529..90509914hg19UCSC Ensembl
Outerchr6:90506301..90510172hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg383386
hg193386
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609908
Supporting Variants
SamplesNA19681
Known GenesMDN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12459741
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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