A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344463



Internal ID15191447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74329617..74331215hg38UCSC Ensembl
Innerchr2:74330215..74330617hg38UCSC Ensembl
Outerchr2:74328617..74332215hg38UCSC Ensembl
chr2:74556744..74558342hg19UCSC Ensembl
Innerchr2:74557342..74557744hg19UCSC Ensembl
Outerchr2:74555744..74559342hg19UCSC Ensembl
chr2:74410252..74411850hg18UCSC Ensembl
Innerchr2:74411252..74410850hg18UCSC Ensembl
Outerchr2:74409252..74412850hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693698
SamplesNA19240
Known GenesSLC4A5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344463
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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