A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441392



Internal ID14941659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:56984038..56984060hg38UCSC Ensembl
Innerchr18:56984042..56984054hg38UCSC Ensembl
Outerchr18:56984022..56984076hg38UCSC Ensembl
chr18:54651269..54651291hg19UCSC Ensembl
Innerchr18:54651273..54651285hg19UCSC Ensembl
Outerchr18:54651253..54651307hg19UCSC Ensembl
chr18:52802267..52802289hg18UCSC Ensembl
Innerchr18:52802283..52802271hg18UCSC Ensembl
Outerchr18:52802251..52802305hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8973782, essv8973775, essv8973774, essv8973779, essv8973776, essv8973778, essv8973773, essv8973777
SamplesNA18545, NA11931, NA12155, NA11831, NA18593, NA12716, NA18945, NA11992
Known GenesWDR7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441392
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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