A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10587521



Internal ID4638166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94873916..94984691hg38UCSC Ensembl
chr2:95539661..95650436hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38110776
hg19110776
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591659
Supporting Variants
SamplesHG04171
Known GenesLOC442028, TEKT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10587521
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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