A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14629373



Internal ID6668273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127699100..127702546hg38UCSC Ensembl
Innerchr12:127699100..127702546hg38UCSC Ensembl
Outerchr12:127699027..127702623hg38UCSC Ensembl
chr12:128183645..128187091hg19UCSC Ensembl
Innerchr12:128183645..128187091hg19UCSC Ensembl
Outerchr12:128183572..128187168hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg383447
hg193447
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631120
Supporting Variants
SamplesNA20809
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14629373
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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