A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13351136



Internal ID1254470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:139104140..139140770hg38UCSC Ensembl
chr8:140116383..140153013hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3836631
hg1936631
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619004
Supporting Variants
SamplesHG01107
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13351136
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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