A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16056140



Internal ID3672612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41610746..41612912hg38UCSC Ensembl
Innerchr19:41610746..41612912hg38UCSC Ensembl
Outerchr19:41610505..41613072hg38UCSC Ensembl
chr19:42117106..42119270hg19UCSC Ensembl
Innerchr19:42117106..42119270hg19UCSC Ensembl
Outerchr19:42116865..42119430hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382167
hg192165
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644388
Supporting Variants
SamplesHG03270
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16056140
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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