A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14338160



Internal ID4339976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2895715..2898045hg38UCSC Ensembl
Innerchr12:2895732..2898029hg38UCSC Ensembl
Outerchr12:2895699..2898062hg38UCSC Ensembl
chr12:3004881..3007211hg19UCSC Ensembl
Innerchr12:3004898..3007195hg19UCSC Ensembl
Outerchr12:3004865..3007228hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382331
hg192331
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628327
Supporting Variants
SamplesHG03693
Known GenesTULP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14338160
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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