A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16052164



Internal ID6053980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38056836..38058799hg38UCSC Ensembl
Innerchr19:38056842..38058794hg38UCSC Ensembl
Outerchr19:38056831..38058805hg38UCSC Ensembl
chr19:38547476..38549439hg19UCSC Ensembl
Innerchr19:38547482..38549434hg19UCSC Ensembl
Outerchr19:38547471..38549445hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg381964
hg191964
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644303
Supporting Variants
SamplesHG02570
Known GenesSIPA1L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16052164
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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