A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9656692



Internal ID12818586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32205706..32205725hg38UCSC Ensembl
Innerchr12:32205702..32205729hg38UCSC Ensembl
Outerchr12:32205683..32205748hg38UCSC Ensembl
chr12:32358640..32358659hg19UCSC Ensembl
Innerchr12:32358636..32358663hg19UCSC Ensembl
Outerchr12:32358617..32358682hg19UCSC Ensembl
chr12:32249907..32249926hg18UCSC Ensembl
Innerchr12:32249930..32249903hg18UCSC Ensembl
Outerchr12:32249884..32249949hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3342381
Supporting Variants
SamplesNA11840
Known GenesBICD1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9656692
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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