A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608789



Internal ID6649022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41283647..41290154hg38UCSC Ensembl
Innerchr6:41283673..41290129hg38UCSC Ensembl
Outerchr6:41283622..41290180hg38UCSC Ensembl
chr6:41251385..41257892hg19UCSC Ensembl
Innerchr6:41251411..41257867hg19UCSC Ensembl
Outerchr6:41251360..41257918hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg386508
hg196508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12327722, essv12327724, essv12327723
SamplesHG03999, NA20854, HG03928
Known GenesTREM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608789
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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