A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866007



Internal ID12971502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:6066922..6066937hg38UCSC Ensembl
Innerchr18:6066924..6066935hg38UCSC Ensembl
Outerchr18:6066920..6066939hg38UCSC Ensembl
chr18:6066921..6066936hg19UCSC Ensembl
Innerchr18:6066923..6066934hg19UCSC Ensembl
Outerchr18:6066919..6066938hg19UCSC Ensembl
chr18:6056921..6056936hg18UCSC Ensembl
Innerchr18:6056923..6056934hg18UCSC Ensembl
Outerchr18:6056919..6056938hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3353825
Supporting Variants
SamplesNA12005
Known GenesL3MBTL4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866007
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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