A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16078623



Internal ID2452193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50752847..50763917hg38UCSC Ensembl
Innerchr19:50752897..50763867hg38UCSC Ensembl
Outerchr19:50752797..50763967hg38UCSC Ensembl
chr19:51256104..51267174hg19UCSC Ensembl
Innerchr19:51256154..51267124hg19UCSC Ensembl
Outerchr19:51256054..51267224hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3811071
hg1911071
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644652
Supporting Variants
SamplesHG02155
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16078623
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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