A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14619297



Internal ID4621113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121659612..121666589hg38UCSC Ensembl
Innerchr12:121659641..121666561hg38UCSC Ensembl
Outerchr12:121659584..121666618hg38UCSC Ensembl
chr12:122097518..122104495hg19UCSC Ensembl
Innerchr12:122097547..122104467hg19UCSC Ensembl
Outerchr12:122097490..122104524hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386978
hg196978
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630952
Supporting Variants
SamplesHG01506
Known GenesMORN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14619297
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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