A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606893



Internal ID6993828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137076249..137106705hg38UCSC Ensembl
Innerchr5:137076399..137106555hg38UCSC Ensembl
Outerchr5:137076099..137106855hg38UCSC Ensembl
chr5:136411938..136442394hg19UCSC Ensembl
Innerchr5:136412088..136442244hg19UCSC Ensembl
Outerchr5:136411788..136442544hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3830457
hg1930457
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12069326
SamplesHG04063
Known GenesSPOCK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606893
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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