A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629047



Internal ID6669187
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14434087, essv14434086
SamplesHG04227, HG03890
Known GenesDENND5B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629047
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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