A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10542474



Internal ID544290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74676602..74749493hg38UCSC Ensembl
chr2:74903729..74976620hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3872892
hg1972892
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591285
Supporting Variants
SamplesHG03908
Known GenesSEMA4F
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10542474
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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