A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307207



Internal ID14807469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:81846358..81846359hg38UCSC Ensembl
Innerchr1:81846341..81846376hg38UCSC Ensembl
Outerchr1:81846340..81846377hg38UCSC Ensembl
chr1:82312043..82312044hg19UCSC Ensembl
Innerchr1:82312026..82312061hg19UCSC Ensembl
Outerchr1:82312025..82312062hg19UCSC Ensembl
chr1:82084631..82084632hg18UCSC Ensembl
Innerchr1:82084649..82084614hg18UCSC Ensembl
Outerchr1:82084613..82084650hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7785380, essv7831608, essv7775302, essv7777674, essv7809490, essv7784051, essv7834163, essv7812232, essv7804825, essv7781397, essv7786306, essv7826088, essv7797165, essv7792308, essv7790859, essv7821853, essv7771503, essv7802574, essv7807138, essv7781057, essv7832230, essv7799422, essv7797793, essv7803129, essv7805689, essv7814904, essv7806433, essv7805481, essv7800028, essv7794155, essv7792013, essv7813225, essv7773840, essv7799886, essv7801440, essv7825630, essv7832726, essv7835458, essv7828462, essv7776356, essv7776505, essv7772354
SamplesNA11881, NA18870, NA12154, NA18861, NA07037, NA19114, NA18501, NA19093, NA11931, NA12776, NA07051, NA19257, NA12414, NA18912, NA18508, NA19239, NA11840, NA07357, NA12761, NA11831, NA18916, NA12234, NA12144, NA12006, NA07346, NA19129, NA18498, NA18502, NA18504, NA18858, NA10851, NA19138, NA12749, NA12156, NA19099, NA12003, NA12045, NA11829, NA19240, NA12717, NA18519, NA07000
Known GenesLPHN2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307207
Frequency
Sample Size185
Observed Gain42
Observed Loss0
Observed Complex0
Frequencyn/a


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