A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11981637



Internal ID1961916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95408125..95410019hg38UCSC Ensembl
Innerchr5:95408136..95410008hg38UCSC Ensembl
Outerchr5:95408114..95410030hg38UCSC Ensembl
chr5:94743829..94745723hg19UCSC Ensembl
Innerchr5:94743840..94745712hg19UCSC Ensembl
Outerchr5:94743818..94745734hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381895
hg191895
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605831
Supporting Variants
SamplesHG01813
Known GenesFAM81B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11981637
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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