A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443612



Internal ID15290565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30318126..30318145hg38UCSC Ensembl
Innerchr12:30318122..30318149hg38UCSC Ensembl
Outerchr12:30318103..30318168hg38UCSC Ensembl
chr12:30471059..30471078hg19UCSC Ensembl
Innerchr12:30471055..30471082hg19UCSC Ensembl
Outerchr12:30471036..30471101hg19UCSC Ensembl
chr12:30362326..30362345hg18UCSC Ensembl
Innerchr12:30362349..30362322hg18UCSC Ensembl
Outerchr12:30362303..30362368hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9656391, essv9656413, essv9656424, essv9656402
SamplesNA12814, NA12045, NA11894, NA12873
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443612
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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