A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16052179



Internal ID6053995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38313006..38314249hg38UCSC Ensembl
Innerchr19:38313059..38314197hg38UCSC Ensembl
Outerchr19:38312954..38314302hg38UCSC Ensembl
chr19:38803646..38804889hg19UCSC Ensembl
Innerchr19:38803699..38804837hg19UCSC Ensembl
Outerchr19:38803594..38804942hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381244
hg191244
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644307
Supporting Variants
SamplesHG03303
Known GenesYIF1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16052179
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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