A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864205



Internal ID13316690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150753818..150753818hg38UCSC Ensembl
Innerchr3:150753816..150753820hg38UCSC Ensembl
Outerchr3:150753816..150753820hg38UCSC Ensembl
chr3:150471605..150471605hg19UCSC Ensembl
Innerchr3:150471603..150471607hg19UCSC Ensembl
Outerchr3:150471603..150471607hg19UCSC Ensembl
chr3:151954295..151954295hg18UCSC Ensembl
Innerchr3:151954297..151954293hg18UCSC Ensembl
Outerchr3:151954293..151954297hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3342752
Supporting Variants
SamplesNA12005
Known GenesSIAH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864205
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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