A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7750149



Internal ID15041924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84588874..84588875hg38UCSC Ensembl
Innerchr1:84588837..84588912hg38UCSC Ensembl
Outerchr1:84588836..84588913hg38UCSC Ensembl
chr1:85054557..85054558hg19UCSC Ensembl
Innerchr1:85054520..85054595hg19UCSC Ensembl
Outerchr1:85054519..85054596hg19UCSC Ensembl
chr1:84827145..84827146hg18UCSC Ensembl
Innerchr1:84827183..84827108hg18UCSC Ensembl
Outerchr1:84827107..84827184hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38181
hg19181
hg18181
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306276
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7750149
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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