A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10317436



Internal ID319252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230234217..230280175hg38UCSC Ensembl
chr1:230369963..230415921hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3845959
hg1945959
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589090
Supporting Variants
SamplesHG01168
Known GenesGALNT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10317436
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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