A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691772



Internal ID15030037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1315609..1315907hg38UCSC Ensembl
Innerchr1:1315608..1315908hg38UCSC Ensembl
Outerchr1:1314609..1316907hg38UCSC Ensembl
chr1:1250989..1251287hg19UCSC Ensembl
Innerchr1:1250988..1251288hg19UCSC Ensembl
Outerchr1:1249989..1252287hg19UCSC Ensembl
chr1:1240852..1241150hg18UCSC Ensembl
Innerchr1:1241151..1240851hg18UCSC Ensembl
Outerchr1:1239852..1242150hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3366182
Supporting Variants
SamplesNA19238
Known GenesCPSF3L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691772
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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