A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10542471



Internal ID544287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74673795..74824958hg38UCSC Ensembl
chr2:74900922..75052085hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38151164
hg19151164
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591284
Supporting Variants
SamplesHG03908
Known GenesSEMA4F
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10542471
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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