A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866170



Internal ID12971607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50533027..50533040hg38UCSC Ensembl
Innerchr20:50533029..50533038hg38UCSC Ensembl
Outerchr20:50533025..50533042hg38UCSC Ensembl
chr20:49149564..49149577hg19UCSC Ensembl
Innerchr20:49149566..49149575hg19UCSC Ensembl
Outerchr20:49149562..49149579hg19UCSC Ensembl
chr20:48582971..48582984hg18UCSC Ensembl
Innerchr20:48582973..48582982hg18UCSC Ensembl
Outerchr20:48582969..48582986hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3393507
Supporting Variants
SamplesNA12005
Known GenesPTPN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866170
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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