A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12456484



Internal ID5087375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87429227..87433571hg38UCSC Ensembl
chr6:88138945..88143289hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg384345
hg194345
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609864
Supporting Variants
SamplesNA18547
Known GenesC6orf165
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12456484
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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