A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12075700



Internal ID3152554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138028969..138032435hg38UCSC Ensembl
Innerchr5:138028969..138032435hg38UCSC Ensembl
Outerchr5:138028730..138032690hg38UCSC Ensembl
chr5:137364658..137368124hg19UCSC Ensembl
Innerchr5:137364658..137368124hg19UCSC Ensembl
Outerchr5:137364419..137368379hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg383467
hg193467
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606916
Supporting Variants
SamplesHG02775
Known GenesFAM13B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12075700
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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