A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630403



Internal ID6670540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93803619..93809137hg38UCSC Ensembl
Innerchr12:93803619..93809137hg38UCSC Ensembl
Outerchr12:93803597..93809174hg38UCSC Ensembl
chr12:94197395..94202913hg19UCSC Ensembl
Innerchr12:94197395..94202913hg19UCSC Ensembl
Outerchr12:94197373..94202950hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg385519
hg195519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14571767, essv14571766, essv14571768, essv14571762, essv14571775, essv14571761, essv14571774, essv14571769, essv14571763, essv14571770, essv14571764, essv14571773, essv14571772, essv14571771, essv14571765
SamplesHG01412, HG01305, NA18995, HG02146, HG01968, HG01893, HG01067, HG01565, HG02265, HG01142, NA18981, NA19655, HG02259, NA19747, NA18997
Known GenesCRADD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630403
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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