A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610519



Internal ID6997436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118563166..118770310hg38UCSC Ensembl
chr6:118884329..119091473hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38207145
hg19207145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12518416
SamplesNA21112
Known GenesCEP85L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610519
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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