A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14434087



Internal ID4435903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31501234..31502636hg38UCSC Ensembl
Innerchr12:31501252..31502619hg38UCSC Ensembl
Outerchr12:31501217..31502654hg38UCSC Ensembl
chr12:31654168..31655570hg19UCSC Ensembl
Innerchr12:31654186..31655553hg19UCSC Ensembl
Outerchr12:31654151..31655588hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381403
hg191403
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629047
Supporting Variants
SamplesHG04227
Known GenesDENND5B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14434087
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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