A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606894



Internal ID6993829
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12069328, essv12069329, essv12069330, essv12069327
SamplesHG03082, HG02716, NA18871, HG02462
Known GenesSPOCK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606894
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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