A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692312



Internal ID14720302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36091264..36093462hg38UCSC Ensembl
Innerchr1:36092264..36092462hg38UCSC Ensembl
Outerchr1:36090264..36094462hg38UCSC Ensembl
chr1:36556865..36559063hg19UCSC Ensembl
Innerchr1:36557865..36558063hg19UCSC Ensembl
Outerchr1:36555865..36560063hg19UCSC Ensembl
chr1:36329452..36331650hg18UCSC Ensembl
Innerchr1:36330452..36330650hg18UCSC Ensembl
Outerchr1:36328452..36332650hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3329704
Supporting Variants
SamplesNA19239
Known GenesADPRHL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692312
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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