A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11257991



Internal ID854538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186087068..186088370hg38UCSC Ensembl
Innerchr3:186087077..186088361hg38UCSC Ensembl
Outerchr3:186087059..186088379hg38UCSC Ensembl
chr3:185804857..185806159hg19UCSC Ensembl
Innerchr3:185804866..185806150hg19UCSC Ensembl
Outerchr3:185804848..185806168hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg381303
hg191303
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598983
Supporting Variants
SamplesHG00446
Known GenesETV5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11257991
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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