A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16052155



Internal ID6053971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37960660..37964782hg38UCSC Ensembl
Innerchr19:37960810..37964632hg38UCSC Ensembl
Outerchr19:37960510..37964932hg38UCSC Ensembl
chr19:38451300..38455422hg19UCSC Ensembl
Innerchr19:38451450..38455272hg19UCSC Ensembl
Outerchr19:38451150..38455572hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg384123
hg194123
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644299
Supporting Variants
SamplesHG02793
Known GenesSIPA1L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16052155
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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