A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3405152



Internal ID14905428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224909807..224909811hg38UCSC Ensembl
Innerchr2:224909799..224909819hg38UCSC Ensembl
Outerchr2:224909795..224909823hg38UCSC Ensembl
chr2:225774524..225774528hg19UCSC Ensembl
Innerchr2:225774516..225774536hg19UCSC Ensembl
Outerchr2:225774512..225774540hg19UCSC Ensembl
chr2:225482768..225482772hg18UCSC Ensembl
Innerchr2:225482780..225482760hg18UCSC Ensembl
Outerchr2:225482756..225482784hg18UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8911244, essv8911235, essv8911291, essv8911290, essv8911269, essv8911288, essv8911280, essv8911251, essv8911238, essv8911242, essv8911286, essv8911284, essv8911233, essv8911247, essv8911256, essv8911279, essv8911277, essv8911231, essv8911236, essv8911263, essv8911255, essv8911261, essv8911245, essv8911246, essv8911282, essv8911254, essv8911249, essv8911273, essv8911272, essv8911283, essv8911264, essv8911287, essv8911275, essv8911232, essv8911234, essv8911239, essv8911271, essv8911253, essv8911266, essv8911240, essv8911243, essv8911274, essv8911278, essv8911241, essv8911258, essv8911257, essv8911289, essv8911276, essv8911252, essv8911267, essv8911262, essv8911268, essv8911293, essv8911295, essv8911265, essv8911285, essv8911294, essv8911250, essv8911260
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, NA12004, NA12155, NA18960, NA07357, NA18592, NA12761, NA18956, NA18959, NA18609, NA18547, NA11831, NA18973, NA18916, NA18593, NA12144, NA12006, NA12716, NA18537, NA18572, NA06986, NA19005, NA18858, NA18562, NA18945, NA18552, NA19138, NA12749, NA12156, NA11992, NA12045, NA11829, NA12717, NA18980
Known GenesDOCK10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3405152
Frequency
Sample Size185
Observed Gain59
Observed Loss0
Observed Complex0
Frequencyn/a


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