A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838444



Internal ID13351763
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 StatusS
Merged Variantsesv3309432
Supporting Variants
SamplesNA12891
Known GenesITPR2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838444
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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