A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16187757



Internal ID2301675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:41431573..41567636hg38UCSC Ensembl
chr20:40060213..40196275hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38136064
hg19136063
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645839
Supporting Variants
SamplesHG02053
Known GenesCHD6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16187757
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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