A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304911



Internal ID14805173
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 StatusM
Merged Variants
Supporting Variantsessv7797735, essv7793939, essv7771037, essv7794619, essv7804829, essv7782595, essv7810523, essv7773992, essv7827041
SamplesNA11931, NA18545, NA12155, NA11992, NA11831, NA18593, NA18945, NA12716, NA12873
Known GenesWDR7
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304911
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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