A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3421234



Internal ID15268192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31317898..31317909hg38UCSC Ensembl
Innerchr13:31317888..31317916hg38UCSC Ensembl
Outerchr13:31317877..31317927hg38UCSC Ensembl
chr13:31892035..31892046hg19UCSC Ensembl
Innerchr13:31892025..31892053hg19UCSC Ensembl
Outerchr13:31892014..31892064hg19UCSC Ensembl
chr13:30790035..30790046hg18UCSC Ensembl
Innerchr13:30790053..30790025hg18UCSC Ensembl
Outerchr13:30790014..30790064hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8959629, essv8959613, essv8959631, essv8959618, essv8959634, essv8959635, essv8959630, essv8959619, essv8959621, essv8959639, essv8959641, essv8959642, essv8959640, essv8959633, essv8959623, essv8959620, essv8959637, essv8959638, essv8959622, essv8959627, essv8959615, essv8959617, essv8959610, essv8959611, essv8959632, essv8959628, essv8959616, essv8959643, essv8959608, essv8959644, essv8959624, essv8959609, essv8959612, essv8959626
SamplesNA11995, NA11829, NA12751, NA18545, NA12004, NA12155, NA19005, NA18940, NA18550, NA18519, NA18558, NA18960, NA18582, NA18964, NA12828, NA18605, NA18516, NA18579, NA18572, NA18566, NA18856, NA12249, NA18532, NA19257, NA12144, NA19108, NA18564, NA07051, NA18943, NA06986, NA18501, NA18505, NA19129, NA18965
Known GenesB3GALTL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3421234
Frequency
Sample Size185
Observed Gain34
Observed Loss0
Observed Complex0
Frequencyn/a


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