A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10893448



Internal ID895264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241310914..241318141hg38UCSC Ensembl
chr2:242250329..242257556hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg387228
hg197228
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594825
Supporting Variants
SamplesHG02836
Known GenesHDLBP, SEPT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10893448
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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