A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644601



Internal ID6684667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48797694..48798881hg38UCSC Ensembl
Innerchr19:48797695..48798880hg38UCSC Ensembl
Outerchr19:48797693..48798882hg38UCSC Ensembl
chr19:49300951..49302138hg19UCSC Ensembl
Innerchr19:49300952..49302137hg19UCSC Ensembl
Outerchr19:49300950..49302139hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381188
hg191188
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16073119, essv16073117, essv16073120, essv16073118
SamplesHG01435, NA18986, HG01923, NA19741
Known GenesBCAT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644601
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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