A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309432



Internal ID14809696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26805725..26805726hg38UCSC Ensembl
Innerchr12:26805700..26805751hg38UCSC Ensembl
Outerchr12:26805699..26805752hg38UCSC Ensembl
chr12:26958658..26958659hg19UCSC Ensembl
Innerchr12:26958633..26958684hg19UCSC Ensembl
Outerchr12:26958632..26958685hg19UCSC Ensembl
chr12:26849925..26849926hg18UCSC Ensembl
Innerchr12:26849951..26849900hg18UCSC Ensembl
Outerchr12:26849899..26849952hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38114
hg19114
hg18114
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837060, essv7837390, essv7837926, essv7838867, essv7838444
SamplesNA19239, NA12892, NA19238, NA12891, NA19240
Known GenesITPR2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309432
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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