A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629565



Internal ID7016386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55096209..55102301hg38UCSC Ensembl
Innerchr12:55096209..55102301hg38UCSC Ensembl
Outerchr12:55095990..55102598hg38UCSC Ensembl
chr12:55489993..55496085hg19UCSC Ensembl
Innerchr12:55489993..55496085hg19UCSC Ensembl
Outerchr12:55489774..55496382hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg386093
hg196093
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14485453, essv14485447, essv14485450, essv14485454, essv14485449, essv14485452, essv14485446, essv14485455, essv14485448, essv14485451
SamplesHG03378, HG03548, HG03069, NA19159, HG03571, HG02667, HG03442, NA19770, HG03410, HG03470
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629565
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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