A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16182088



Internal ID6183926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38980103..39028992hg38UCSC Ensembl
chr20:37608746..37657635hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3848890
hg1948890
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645799
Supporting Variants
SamplesNA19377
Known GenesDHX35
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16182088
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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