A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385175



Internal ID15232145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1970753..1971551hg38UCSC Ensembl
Innerchr1:1970752..1971552hg38UCSC Ensembl
Outerchr1:1969753..1972551hg38UCSC Ensembl
chr1:1902192..1902990hg19UCSC Ensembl
Innerchr1:1902191..1902991hg19UCSC Ensembl
Outerchr1:1901192..1903990hg19UCSC Ensembl
chr1:1892052..1892850hg18UCSC Ensembl
Innerchr1:1892851..1892051hg18UCSC Ensembl
Outerchr1:1891052..1893850hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692084
SamplesNA19240
Known GenesKIAA1751
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385175
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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