A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866008



Internal ID13318184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:6365933..6365943hg38UCSC Ensembl
Innerchr18:6365913..6365963hg38UCSC Ensembl
Outerchr18:6365903..6365973hg38UCSC Ensembl
chr18:6365932..6365942hg19UCSC Ensembl
Innerchr18:6365912..6365962hg19UCSC Ensembl
Outerchr18:6365902..6365972hg19UCSC Ensembl
chr18:6355932..6355942hg18UCSC Ensembl
Innerchr18:6355962..6355912hg18UCSC Ensembl
Outerchr18:6355902..6355972hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3433465
Supporting Variants
SamplesNA12005
Known GenesL3MBTL4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866008
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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