A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3371950



Internal ID14872209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188989140..188989150hg38UCSC Ensembl
Innerchr2:188989132..188989156hg38UCSC Ensembl
Outerchr2:188989122..188989166hg38UCSC Ensembl
chr2:189853866..189853876hg19UCSC Ensembl
Innerchr2:189853858..189853882hg19UCSC Ensembl
Outerchr2:189853848..189853892hg19UCSC Ensembl
chr2:189562111..189562121hg18UCSC Ensembl
Innerchr2:189562127..189562103hg18UCSC Ensembl
Outerchr2:189562093..189562137hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8910029, essv8909999, essv8910022, essv8910006, essv8910017, essv8910021, essv8910012, essv8910027, essv8910032, essv8910002, essv8910013, essv8910000, essv8910007, essv8910001, essv8910008, essv8910009, essv8910005, essv8909998, essv8910024, essv8910016, essv8910031, essv8910020, essv8910023, essv8910025, essv8910018, essv8910028, essv8910011, essv8910019, essv8910014, essv8910030, essv8910010
SamplesNA18502, NA18508, NA11920, NA18504, NA18870, NA18510, NA18519, NA07347, NA19210, NA18516, NA18871, NA18907, NA18856, NA18912, NA18532, NA19099, NA19225, NA18858, NA18576, NA18608, NA18542, NA19108, NA19147, NA18517, NA07051, NA18501, NA19093, NA18505, NA12006, NA18522, NA18965
Known GenesCOL3A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3371950
Frequency
Sample Size185
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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