A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10483453



Internal ID6284942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44290134..44306750hg38UCSC Ensembl
chr2:44517273..44533889hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3816617
hg1916617
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590554
Supporting Variants
SamplesNA19818
Known GenesSLC3A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10483453
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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