A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305963



Internal ID14806225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29913906..29913907hg38UCSC Ensembl
Innerchr2:29913871..29913942hg38UCSC Ensembl
Outerchr2:29913870..29913943hg38UCSC Ensembl
chr2:30136772..30136773hg19UCSC Ensembl
Innerchr2:30136737..30136808hg19UCSC Ensembl
Outerchr2:30136736..30136809hg19UCSC Ensembl
chr2:29990276..29990277hg18UCSC Ensembl
Innerchr2:29990312..29990241hg18UCSC Ensembl
Outerchr2:29990240..29990313hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38309
hg19309
hg18309
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758538, essv7754577, essv7741360, essv7742144
SamplesNA18861, NA18871, NA18909, NA18519
Known GenesALK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305963
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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