A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16052169



Internal ID6053985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38186775..38188711hg38UCSC Ensembl
Innerchr19:38186788..38188698hg38UCSC Ensembl
Outerchr19:38186762..38188724hg38UCSC Ensembl
chr19:38677415..38679351hg19UCSC Ensembl
Innerchr19:38677428..38679338hg19UCSC Ensembl
Outerchr19:38677402..38679364hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg381937
hg191937
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644305
Supporting Variants
SamplesHG02922
Known GenesSIPA1L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16052169
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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