A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7831841



Internal ID14562323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30967798..30967799hg38UCSC Ensembl
Innerchr12:30967780..30967817hg38UCSC Ensembl
Outerchr12:30967779..30967818hg38UCSC Ensembl
chr12:31120733..31120734hg19UCSC Ensembl
Innerchr12:31120715..31120752hg19UCSC Ensembl
Outerchr12:31120714..31120753hg19UCSC Ensembl
chr12:31012000..31012001hg18UCSC Ensembl
Innerchr12:31012019..31011982hg18UCSC Ensembl
Outerchr12:31011981..31012020hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38306
hg19306
hg18306
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306795
Supporting Variants
SamplesNA19138
Known GenesTSPAN11
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7831841
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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