A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7754948



Internal ID13568545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111639402..111639403hg38UCSC Ensembl
Innerchr1:111639369..111639436hg38UCSC Ensembl
Outerchr1:111639368..111639437hg38UCSC Ensembl
chr1:112182024..112182025hg19UCSC Ensembl
Innerchr1:112181991..112182058hg19UCSC Ensembl
Outerchr1:112181990..112182059hg19UCSC Ensembl
chr1:111983547..111983548hg18UCSC Ensembl
Innerchr1:111983581..111983514hg18UCSC Ensembl
Outerchr1:111983513..111983582hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381577
hg191577
hg181577
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305407
Supporting Variants
SamplesNA18523
Known GenesRAP1A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7754948
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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