A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12069327



Internal ID2786968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137117052..137122299hg38UCSC Ensembl
chr5:136452741..136457988hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg385248
hg195248
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606894
Supporting Variants
SamplesHG02462
Known GenesSPOCK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12069327
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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