A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12075807



Internal ID2194310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138339900..138344394hg38UCSC Ensembl
Innerchr5:138339900..138344394hg38UCSC Ensembl
Outerchr5:138339776..138344528hg38UCSC Ensembl
chr5:137675589..137680083hg19UCSC Ensembl
Innerchr5:137675589..137680083hg19UCSC Ensembl
Outerchr5:137675465..137680217hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg384495
hg194495
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606920
Supporting Variants
SamplesHG01979
Known GenesFAM53C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12075807
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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