A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863844



Internal ID12969618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241668899..241668912hg38UCSC Ensembl
Innerchr1:241668875..241668936hg38UCSC Ensembl
Outerchr1:241668862..241668949hg38UCSC Ensembl
chr1:241832201..241832214hg19UCSC Ensembl
Innerchr1:241832177..241832238hg19UCSC Ensembl
Outerchr1:241832164..241832251hg19UCSC Ensembl
chr1:239898824..239898837hg18UCSC Ensembl
Innerchr1:239898861..239898800hg18UCSC Ensembl
Outerchr1:239898787..239898874hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3337219
Supporting Variants
SamplesNA12005
Known GenesWDR64
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863844
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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