A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305439



Internal ID15152387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73860034..73860035hg38UCSC Ensembl
Innerchr2:73860001..73860068hg38UCSC Ensembl
Outerchr2:73860000..73860069hg38UCSC Ensembl
chr2:74087161..74087162hg19UCSC Ensembl
Innerchr2:74087128..74087195hg19UCSC Ensembl
Outerchr2:74087127..74087196hg19UCSC Ensembl
chr2:73940669..73940670hg18UCSC Ensembl
Innerchr2:73940703..73940636hg18UCSC Ensembl
Outerchr2:73940635..73940704hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg383688
hg193688
hg183688
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7740846, essv7756740, essv7755555, essv7743878, essv7746922, essv7762145, essv7759245, essv7754958
SamplesNA18508, NA18489, NA19138, NA19137, NA18523, NA18576, NA19108, NA18511
Known GenesSTAMBP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305439
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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