A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11943858



Internal ID1945674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72962431..72965941hg38UCSC Ensembl
Innerchr5:72962436..72965937hg38UCSC Ensembl
Outerchr5:72962427..72965946hg38UCSC Ensembl
chr5:72258258..72261768hg19UCSC Ensembl
Innerchr5:72258263..72261764hg19UCSC Ensembl
Outerchr5:72258254..72261773hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg383511
hg193511
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605410
Supporting Variants
SamplesHG03634
Known GenesFCHO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11943858
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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