A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10550024



Internal ID551840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:76645385..76757149hg38UCSC Ensembl
chr2:76872511..76984275hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38111765
hg19111765
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591331
Supporting Variants
SamplesHG03687
Known GenesLRRTM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10550024
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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