A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740927



Internal ID13293404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227571339..227571347hg38UCSC Ensembl
Innerchr1:227571338..227571348hg38UCSC Ensembl
Outerchr1:227571289..227571397hg38UCSC Ensembl
chr1:227759040..227759048hg19UCSC Ensembl
Innerchr1:227759039..227759049hg19UCSC Ensembl
Outerchr1:227758990..227759098hg19UCSC Ensembl
chr1:225825663..225825671hg18UCSC Ensembl
Innerchr1:225825672..225825662hg18UCSC Ensembl
Outerchr1:225825613..225825721hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3407161
Supporting Variants
SamplesNA12878
Known GenesZNF678
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740927
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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