A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10383113



Internal ID2459210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:315309..845608hg38UCSC Ensembl
chr2:315309..841550hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38530300
hg19526242
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589601
Supporting Variants
SamplesHG02165
Known GenesLINC01115, TMEM18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10383113
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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