A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3399148



Internal ID14899425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:150768535..150768554hg38UCSC Ensembl
Innerchr4:150768531..150768558hg38UCSC Ensembl
Outerchr4:150768512..150768577hg38UCSC Ensembl
chr4:151689687..151689706hg19UCSC Ensembl
Innerchr4:151689683..151689710hg19UCSC Ensembl
Outerchr4:151689664..151689729hg19UCSC Ensembl
chr4:151909137..151909156hg18UCSC Ensembl
Innerchr4:151909160..151909133hg18UCSC Ensembl
Outerchr4:151909114..151909179hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678825
SamplesNA12878
Known GenesLRBA
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3399148
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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