A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669213



Internal ID9935318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8900530..8901351hg38UCSC Ensembl
Outerchr12:8900373..8901504hg38UCSC Ensembl
Innerchr12:9053126..9053947hg19UCSC Ensembl
Outerchr12:9052969..9054100hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381132
hg191132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6144751, essv6465221, essv6178771, essv5736030, essv6549650, essv6032376, essv6594252, essv6575134, essv5465584, essv5638240, essv5830353, essv5757183, essv5919197
SamplesNA19394, NA19350, NA19382, HG00736, NA19385, NA19921, NA19247, NA18933, NA20299, NA19321, NA19434, NA19311, HG01251
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669213
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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