A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863678



Internal ID13316100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18653189..18653197hg38UCSC Ensembl
Innerchr1:18653191..18653195hg38UCSC Ensembl
Outerchr1:18653187..18653199hg38UCSC Ensembl
chr1:18979683..18979691hg19UCSC Ensembl
Innerchr1:18979685..18979689hg19UCSC Ensembl
Outerchr1:18979681..18979693hg19UCSC Ensembl
chr1:18852270..18852278hg18UCSC Ensembl
Innerchr1:18852272..18852276hg18UCSC Ensembl
Outerchr1:18852268..18852280hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3417922
Supporting Variants
SamplesNA12005
Known GenesPAX7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863678
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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