A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740981



Internal ID15085670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10012906..10012906hg38UCSC Ensembl
Innerchr1:10012905..10012907hg38UCSC Ensembl
Outerchr1:10012856..10012956hg38UCSC Ensembl
chr1:10072964..10072964hg19UCSC Ensembl
Innerchr1:10072963..10072965hg19UCSC Ensembl
Outerchr1:10072914..10073014hg19UCSC Ensembl
chr1:9995551..9995551hg18UCSC Ensembl
Innerchr1:9995552..9995550hg18UCSC Ensembl
Outerchr1:9995501..9995601hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38837
hg19837
hg18837
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3336969
Supporting Variants
SamplesNA19240
Known GenesRBP7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740981
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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