A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863749



Internal ID14592234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115703917..115703923hg38UCSC Ensembl
Innerchr1:115703916..115703924hg38UCSC Ensembl
Outerchr1:115703910..115703930hg38UCSC Ensembl
chr1:116246538..116246544hg19UCSC Ensembl
Innerchr1:116246537..116246545hg19UCSC Ensembl
Outerchr1:116246531..116246551hg19UCSC Ensembl
chr1:116048061..116048067hg18UCSC Ensembl
Innerchr1:116048068..116048060hg18UCSC Ensembl
Outerchr1:116048054..116048074hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3430953
Supporting Variants
SamplesNA18953
Known GenesCASQ2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863749
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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