A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13211273



Internal ID6837885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61281967..61365973hg38UCSC Ensembl
chr8:62194526..62278532hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg3884007
hg1984007
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617383
Supporting Variants
SamplesNA20906
Known GenesCLVS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13211273
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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