A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12060974



Internal ID2243586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128520035..128525639hg38UCSC Ensembl
Innerchr5:128520035..128525639hg38UCSC Ensembl
Outerchr5:128519897..128525766hg38UCSC Ensembl
chr5:127855728..127861332hg19UCSC Ensembl
Innerchr5:127855728..127861332hg19UCSC Ensembl
Outerchr5:127855590..127861459hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg385605
hg195605
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606726
Supporting Variants
SamplesHG02012
Known GenesFBN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12060974
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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