A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11925662



Internal ID4420208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:62324155..62358816hg38UCSC Ensembl
chr5:61619982..61654643hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3834662
hg1934662
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605230
Supporting Variants
SamplesHG03934
Known GenesKIF2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11925662
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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