A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14629461



Internal ID3648362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128077406..128079241hg38UCSC Ensembl
Innerchr12:128077416..128079231hg38UCSC Ensembl
Outerchr12:128077396..128079251hg38UCSC Ensembl
chr12:128561951..128563786hg19UCSC Ensembl
Innerchr12:128561961..128563776hg19UCSC Ensembl
Outerchr12:128561941..128563796hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381836
hg191836
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631132
Supporting Variants
SamplesHG03241
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14629461
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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