A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630402



Internal ID6670539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93749488..93750323hg38UCSC Ensembl
Innerchr12:93749490..93750321hg38UCSC Ensembl
Outerchr12:93749486..93750325hg38UCSC Ensembl
chr12:94143264..94144099hg19UCSC Ensembl
Innerchr12:94143266..94144097hg19UCSC Ensembl
Outerchr12:94143262..94144101hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38836
hg19836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14571759, essv14571754, essv14571753, essv14571756, essv14571755, essv14571757, essv14571758, essv14571760
SamplesHG00350, NA20845, HG01088, NA20767, HG00185, NA19755, NA20886, HG00183
Known GenesCRADD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630402
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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