A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11103858



Internal ID1848706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112044469..112045308hg38UCSC Ensembl
Innerchr3:112044519..112045258hg38UCSC Ensembl
Outerchr3:112044411..112045366hg38UCSC Ensembl
chr3:111763316..111764155hg19UCSC Ensembl
Innerchr3:111763366..111764105hg19UCSC Ensembl
Outerchr3:111763258..111764213hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38840
hg19840
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597404
Supporting Variants
SamplesHG01710
Known GenesTMPRSS7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11103858
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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