A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10932304



Internal ID934120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14136652..14137345hg38UCSC Ensembl
Innerchr3:14136654..14137343hg38UCSC Ensembl
Outerchr3:14136650..14137347hg38UCSC Ensembl
chr3:14178152..14178845hg19UCSC Ensembl
Innerchr3:14178154..14178843hg19UCSC Ensembl
Outerchr3:14178150..14178847hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38694
hg19694
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595362
Supporting Variants
SamplesHG03311
Known GenesTMEM43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10932304
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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