A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12075763



Internal ID3873457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138196799..138197710hg38UCSC Ensembl
Innerchr5:138196809..138197700hg38UCSC Ensembl
Outerchr5:138196789..138197720hg38UCSC Ensembl
chr5:137532488..137533399hg19UCSC Ensembl
Innerchr5:137532498..137533389hg19UCSC Ensembl
Outerchr5:137532478..137533409hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38912
hg19912
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606919
Supporting Variants
SamplesHG03517
Known GenesCDC23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12075763
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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