A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589832



Internal ID6630121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12716917..12720166hg38UCSC Ensembl
Innerchr2:12716917..12720166hg38UCSC Ensembl
Outerchr2:12716417..12720666hg38UCSC Ensembl
chr2:12857043..12860292hg19UCSC Ensembl
Innerchr2:12857043..12860292hg19UCSC Ensembl
Outerchr2:12856543..12860792hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg383250
hg193250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10411972, essv10412004, essv10411991, essv10411996, essv10411994, essv10411967, essv10411980, essv10411983, essv10411977, essv10411970, essv10411968, essv10412001, essv10411987, essv10412003, essv10411976, essv10411969, essv10411982, essv10412002, essv10411989, essv10411978, essv10411979, essv10412000, essv10411986, essv10411992, essv10411971, essv10411985, essv10411999, essv10411998, essv10411995, essv10411990, essv10411984, essv10411997, essv10411974, essv10411973, essv10411988, essv10411975, essv10411993, essv10411981
SamplesHG00235, NA21110, HG02496, NA19734, NA19020, NA20298, NA19443, NA19314, HG02285, NA18962, HG01277, NA19923, NA19036, NA20412, NA19025, HG01275, NA18640, HG02090, HG01271, NA18939, NA19118, NA19031, HG02089, HG01272, NA12873, NA18992, NA19467, NA18643, NA19741, NA12874, NA19117, NA18994, NA19185, NA19096, NA18957, NA19146, NA19214, NA18620
Known GenesTRIB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589832
Frequency
Sample Size2504
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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