A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16052157



Internal ID2467215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37971921..37973931hg38UCSC Ensembl
Innerchr19:37971961..37973891hg38UCSC Ensembl
Outerchr19:37971881..37973971hg38UCSC Ensembl
chr19:38462561..38464571hg19UCSC Ensembl
Innerchr19:38462601..38464531hg19UCSC Ensembl
Outerchr19:38462521..38464611hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg382011
hg192011
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644301
Supporting Variants
SamplesHG02179
Known GenesSIPA1L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16052157
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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