A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16052165



Internal ID6053981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38075653..38078191hg38UCSC Ensembl
Innerchr19:38075659..38078185hg38UCSC Ensembl
Outerchr19:38075647..38078197hg38UCSC Ensembl
chr19:38566293..38568831hg19UCSC Ensembl
Innerchr19:38566299..38568825hg19UCSC Ensembl
Outerchr19:38566287..38568837hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg382539
hg192539
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644304
Supporting Variants
SamplesHG03604
Known GenesSIPA1L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16052165
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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