A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592559



Internal ID6979886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134674265..134697739hg38UCSC Ensembl
Innerchr2:134674765..134697239hg38UCSC Ensembl
Outerchr2:134673265..134698739hg38UCSC Ensembl
chr2:135431835..135455309hg19UCSC Ensembl
Innerchr2:135432335..135454809hg19UCSC Ensembl
Outerchr2:135430835..135456309hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3823475
hg1923475
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10682878
SamplesHG02789
Known GenesTMEM163
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592559
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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