A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3419666



Internal ID15266624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:91570982..91685697hg38UCSC Ensembl
Innerchr2:91571707..91684697hg38UCSC Ensembl
Outerchr2:91569979..91686697hg38UCSC Ensembl
chr2:91750325..91873723hg19UCSC Ensembl
Innerchr2:91751325..91872723hg19UCSC Ensembl
Outerchr2:91749325..91874723hg19UCSC Ensembl
chr2:91114052..91237450hg18UCSC Ensembl
Innerchr2:91115052..91236450hg18UCSC Ensembl
Outerchr2:91113052..91238450hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38114716
hg19123399
hg18123399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693763
SamplesNA12878
Known GenesLOC654342
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3419666
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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