A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10719665



Internal ID721481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154445647..154453382hg38UCSC Ensembl
chr2:155302159..155309894hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg387736
hg197736
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592991
Supporting Variants
SamplesHG04020
Known GenesGALNT13, LOC100144595
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10719665
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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