A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7766526



Internal ID13258741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32205715..32205716hg38UCSC Ensembl
Innerchr12:32205693..32205738hg38UCSC Ensembl
Outerchr12:32205692..32205739hg38UCSC Ensembl
chr12:32358649..32358650hg19UCSC Ensembl
Innerchr12:32358627..32358672hg19UCSC Ensembl
Outerchr12:32358626..32358673hg19UCSC Ensembl
chr12:32249916..32249917hg18UCSC Ensembl
Innerchr12:32249939..32249894hg18UCSC Ensembl
Outerchr12:32249893..32249940hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306969
Supporting Variants
SamplesNA12814
Known GenesBICD1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7766526
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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