A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303983



Internal ID14804245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224909807..224909808hg38UCSC Ensembl
Innerchr2:224909783..224909832hg38UCSC Ensembl
Outerchr2:224909782..224909833hg38UCSC Ensembl
chr2:225774524..225774525hg19UCSC Ensembl
Innerchr2:225774500..225774549hg19UCSC Ensembl
Outerchr2:225774499..225774550hg19UCSC Ensembl
chr2:225482768..225482769hg18UCSC Ensembl
Innerchr2:225482793..225482744hg18UCSC Ensembl
Outerchr2:225482743..225482794hg18UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7750720, essv7750936, essv7761882, essv7741118, essv7745250, essv7752245, essv7755057, essv7752529, essv7741919, essv7741218, essv7755756, essv7757205, essv7745022, essv7746911, essv7754398, essv7747972, essv7762577, essv7746270, essv7740890, essv7751390, essv7746550, essv7762506, essv7749018, essv7754182, essv7752386, essv7746047, essv7751920, essv7753814, essv7742804, essv7743478, essv7747608, essv7760495, essv7755452, essv7757690, essv7742559, essv7751294, essv7759414, essv7759742, essv7742106, essv7748369, essv7751609, essv7756049, essv7745854, essv7751847, essv7761000, essv7757882, essv7750370, essv7759485, essv7752087, essv7750071, essv7743290, essv7750878, essv7757538, essv7762100, essv7762894, essv7758127, essv7752286, essv7748483, essv7748273, essv7740372, essv7762721, essv7748791, essv7748613, essv7751181
SamplesNA19137, NA18870, NA12043, NA12489, NA12249, NA12750, NA07037, NA18951, NA18523, NA18952, NA11920, NA18526, NA11918, NA18550, NA18948, NA12828, NA18517, NA18947, NA18573, NA18542, NA19210, NA07051, NA19108, NA18965, NA18943, NA12414, NA19239, NA12004, NA12155, NA18960, NA07357, NA18592, NA12761, NA18956, NA18959, NA18609, NA18547, NA11831, NA18973, NA18916, NA18593, NA12144, NA12006, NA12716, NA18537, NA12892, NA18572, NA06986, NA19005, NA18858, NA18562, NA18945, NA12891, NA18552, NA19138, NA12749, NA12156, NA12878, NA11992, NA12045, NA11829, NA19240, NA12717, NA18980
Known GenesDOCK10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303983
Frequency
Sample Size185
Observed Gain64
Observed Loss0
Observed Complex0
Frequencyn/a


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