A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678825



Internal ID13321390
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 StatusS
Merged Variantsesv3399148
Supporting Variants
SamplesNA12878
Known GenesLRBA
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678825
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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