A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7763947



Internal ID12989887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35254034..35254035hg38UCSC Ensembl
Innerchr18:35254012..35254057hg38UCSC Ensembl
Outerchr18:35254011..35254058hg38UCSC Ensembl
chr18:32833998..32833999hg19UCSC Ensembl
Innerchr18:32833976..32834021hg19UCSC Ensembl
Outerchr18:32833975..32834022hg19UCSC Ensembl
chr18:31087996..31087997hg18UCSC Ensembl
Innerchr18:31088019..31087974hg18UCSC Ensembl
Outerchr18:31087973..31088020hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38722
hg19722
hg18722
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305949
Supporting Variants
SamplesNA12043
Known GenesZNF397, ZSCAN30
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7763947
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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