A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10718931



Internal ID2577505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:153897327..153989110hg38UCSC Ensembl
chr2:154753840..154845623hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3891784
hg1991784
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592972
Supporting Variants
SamplesHG02283
Known GenesGALNT13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10718931
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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