A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12062111



Internal ID2486993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129970833..130040305hg38UCSC Ensembl
Innerchr5:129970843..130040296hg38UCSC Ensembl
Outerchr5:129970824..130040315hg38UCSC Ensembl
chr5:129306526..129375998hg19UCSC Ensembl
Innerchr5:129306536..129375989hg19UCSC Ensembl
Outerchr5:129306517..129376008hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3869473
hg1969473
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606767
Supporting Variants
SamplesHG02187
Known GenesCHSY3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12062111
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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