A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7810523



Internal ID14166323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:56984043..56984044hg38UCSC Ensembl
Innerchr18:56984025..56984062hg38UCSC Ensembl
Outerchr18:56984024..56984063hg38UCSC Ensembl
chr18:54651274..54651275hg19UCSC Ensembl
Innerchr18:54651256..54651293hg19UCSC Ensembl
Outerchr18:54651255..54651294hg19UCSC Ensembl
chr18:52802272..52802273hg18UCSC Ensembl
Innerchr18:52802291..52802254hg18UCSC Ensembl
Outerchr18:52802253..52802292hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38208
hg19208
hg18208
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304911
Supporting Variants
SamplesNA18945
Known GenesWDR7
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7810523
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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