A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303346



Internal ID14803608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107599843..107599844hg38UCSC Ensembl
Innerchr1:107599827..107599860hg38UCSC Ensembl
Outerchr1:107599826..107599861hg38UCSC Ensembl
chr1:108142465..108142466hg19UCSC Ensembl
Innerchr1:108142449..108142482hg19UCSC Ensembl
Outerchr1:108142448..108142483hg19UCSC Ensembl
chr1:107943988..107943989hg18UCSC Ensembl
Innerchr1:107944005..107943972hg18UCSC Ensembl
Outerchr1:107943971..107944006hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38286
hg19286
hg18286
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7784575, essv7824027, essv7828075, essv7832720, essv7771170, essv7823449, essv7810967, essv7815294, essv7807547, essv7777473, essv7775755, essv7821121, essv7776588, essv7833483, essv7804587, essv7779476, essv7774484, essv7831805, essv7785851, essv7798755, essv7786947, essv7787859, essv7828779, essv7781916, essv7830442, essv7782699, essv7800719, essv7819270, essv7796696, essv7796353, essv7778482, essv7774940, essv7793067, essv7802580, essv7780901, essv7784487, essv7811234, essv7825412, essv7835062, essv7835961, essv7794109, essv7792074, essv7806111, essv7812030, essv7772251, essv7777823, essv7829271, essv7834093, essv7827229, essv7773957, essv7817013, essv7828547, essv7786195, essv7790602, essv7788636, essv7801895, essv7819487, essv7797627, essv7813463, essv7782050, essv7771904, essv7792683, essv7801184, essv7811793, essv7816850, essv7785478, essv7813823, essv7796978, essv7810242, essv7825106, essv7831337, essv7800347, essv7776400
SamplesNA11881, NA18870, NA18964, NA12154, NA12043, NA12249, NA18861, NA07347, NA12750, NA18871, NA18561, NA18523, NA19114, NA18501, NA11918, NA18550, NA18570, NA10847, NA18603, NA11931, NA18947, NA18542, NA18489, NA07051, NA18965, NA18505, NA12044, NA18943, NA19147, NA18949, NA11840, NA12004, NA11994, NA18576, NA18563, NA07357, NA12873, NA18956, NA18609, NA11831, NA11894, NA18973, NA18916, NA12234, NA12144, NA12716, NA18537, NA19172, NA12892, NA19102, NA06986, NA18522, NA19238, NA18558, NA18504, NA18562, NA19141, NA18940, NA10851, NA18582, NA19138, NA18907, NA12749, NA12156, NA11830, NA11992, NA18944, NA12045, NA19240, NA12717, NA18555, NA18519, NA07000
Known GenesVAV3
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303346
Frequency
Sample Size185
Observed Gain73
Observed Loss0
Observed Complex0
Frequencyn/a


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