A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7766016



Internal ID13271036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170994904..170994905hg38UCSC Ensembl
Innerchr1:170994882..170994927hg38UCSC Ensembl
Outerchr1:170994881..170994928hg38UCSC Ensembl
chr1:170964045..170964046hg19UCSC Ensembl
Innerchr1:170964023..170964068hg19UCSC Ensembl
Outerchr1:170964022..170964069hg19UCSC Ensembl
chr1:169230669..169230670hg18UCSC Ensembl
Innerchr1:169230692..169230647hg18UCSC Ensembl
Outerchr1:169230646..169230693hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38294
hg19294
hg18294
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307086
Supporting Variants
SamplesNA12873
Known GenesMROH9
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7766016
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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