A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303188



Internal ID14803450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1327200..1327201hg38UCSC Ensembl
Innerchr12:1327181..1327220hg38UCSC Ensembl
Outerchr12:1327180..1327221hg38UCSC Ensembl
chr12:1436366..1436367hg19UCSC Ensembl
Innerchr12:1436347..1436386hg19UCSC Ensembl
Outerchr12:1436346..1436387hg19UCSC Ensembl
chr12:1306627..1306628hg18UCSC Ensembl
Innerchr12:1306647..1306608hg18UCSC Ensembl
Outerchr12:1306607..1306648hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38179
hg19179
hg18179
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7829909, essv7779475, essv7825125
SamplesNA19147, NA19143, NA18907
Known GenesERC1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303188
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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