A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609908



Internal ID6996827
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12459741, essv12459742, essv12459743
SamplesNA19681, NA19729, NA19747
Known GenesMDN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609908
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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