A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8973775



Internal ID13925007
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 StatusS
Merged Variantsesv3441392
Supporting Variants
SamplesNA18593
Known GenesWDR7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8973775
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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