A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629726



Internal ID7016547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:61875784..61885065hg38UCSC Ensembl
Innerchr12:61875789..61885060hg38UCSC Ensembl
Outerchr12:61875779..61885070hg38UCSC Ensembl
chr12:62269565..62278846hg19UCSC Ensembl
Innerchr12:62269570..62278841hg19UCSC Ensembl
Outerchr12:62269560..62278851hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg389282
hg199282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14508458, essv14508459, essv14508461, essv14508460
SamplesHG03945, NA20832, HG03854, NA12830
Known GenesFAM19A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629726
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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