A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10850347



Internal ID852163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217776943..217831324hg38UCSC Ensembl
chr2:218641666..218696047hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3854382
hg1954382
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594325
Supporting Variants
SamplesHG03515
Known GenesTNS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10850347
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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