A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611594



Internal ID6998500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:164326941..164400741hg38UCSC Ensembl
Innerchr6:164326971..164400711hg38UCSC Ensembl
Outerchr6:164326911..164400771hg38UCSC Ensembl
chr6:164747974..164821774hg19UCSC Ensembl
Innerchr6:164748004..164821744hg19UCSC Ensembl
Outerchr6:164747944..164821804hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3873801
hg1973801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1238e214
Supporting Variantsessv12626186, essv12626185
SamplesHG00187, NA19089
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611594
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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