A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8901938



Internal ID13493152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180724595..180724621hg38UCSC Ensembl
Innerchr1:180724607..180724607hg38UCSC Ensembl
Outerchr1:180724581..180724633hg38UCSC Ensembl
chr1:180693731..180693757hg19UCSC Ensembl
Innerchr1:180693743..180693743hg19UCSC Ensembl
Outerchr1:180693717..180693769hg19UCSC Ensembl
chr1:178960354..178960380hg18UCSC Ensembl
Innerchr1:178960366..178960366hg18UCSC Ensembl
Outerchr1:178960340..178960392hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3397949
Supporting Variants
SamplesNA18508
Known GenesXPR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8901938
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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