A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692127



Internal ID15110128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:261238..269036hg38UCSC Ensembl
Innerchr1:262238..268036hg38UCSC Ensembl
Outerchr1:260238..270036hg38UCSC Ensembl
chr1:230989..238787hg19UCSC Ensembl
Innerchr1:231989..237787hg19UCSC Ensembl
Outerchr1:229989..239787hg19UCSC Ensembl
chr1:220852..228650hg18UCSC Ensembl
Innerchr1:221852..227650hg18UCSC Ensembl
Outerchr1:219852..229650hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg387799
hg197799
hg187799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3431827
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692127
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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