A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692065



Internal ID14763129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16863770..16949268hg38UCSC Ensembl
Innerchr1:16864770..16948268hg38UCSC Ensembl
Outerchr1:16862770..16950268hg38UCSC Ensembl
chr1:17190265..17275763hg19UCSC Ensembl
Innerchr1:17191265..17274763hg19UCSC Ensembl
Outerchr1:17189265..17276763hg19UCSC Ensembl
chr1:17062852..17148350hg18UCSC Ensembl
Innerchr1:17063852..17147350hg18UCSC Ensembl
Outerchr1:17061852..17149350hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3885499
hg1985499
hg1885499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3380286
Supporting Variants
SamplesNA19240
Known GenesCROCC
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692065
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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