A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591028



Internal ID6978356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61892545..61893540hg38UCSC Ensembl
Innerchr2:61892550..61893535hg38UCSC Ensembl
Outerchr2:61892540..61893545hg38UCSC Ensembl
chr2:62119680..62120675hg19UCSC Ensembl
Innerchr2:62119685..62120670hg19UCSC Ensembl
Outerchr2:62119675..62120680hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38996
hg19996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10520358, essv10520353, essv10520347, essv10520330, essv10520355, essv10520351, essv10520337, essv10520348, essv10520336, essv10520339, essv10520344, essv10520332, essv10520334, essv10520328, essv10520340, essv10520338, essv10520333, essv10520324, essv10520341, essv10520356, essv10520331, essv10520335, essv10520323, essv10520322, essv10520346, essv10520326, essv10520325, essv10520350, essv10520354, essv10520349, essv10520329, essv10520343, essv10520342, essv10520345, essv10520357, essv10520352, essv10520327
SamplesHG02614, HG01485, NA19141, HG03449, HG02852, HG02804, NA19393, HG03518, NA20356, HG03082, HG03135, HG02860, NA18498, HG02922, HG02111, NA19041, HG02885, HG02588, HG03058, HG03055, HG03048, HG02879, HG02716, HG02570, HG02878, NA19114, HG03078, NA18856, NA19099, NA19225, HG02675, HG01148, NA19108, HG01958, HG03259, NA19185, NA19213
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591028
Frequency
Sample Size2504
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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