A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16187755



Internal ID4813121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:41431573..41567636hg38UCSC Ensembl
chr20:40060213..40196275hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38136064
hg19136063
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645838
Supporting Variants
SamplesNA12004
Known GenesCHD6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16187755
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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