A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12456480



Internal ID5350513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87429227..87433571hg38UCSC Ensembl
chr6:88138945..88143289hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg384345
hg194345
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609863
Supporting Variants
SamplesNA18879
Known GenesC6orf165
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12456480
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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