A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11981479



Internal ID5705080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94043828..94045599hg38UCSC Ensembl
Innerchr5:94043852..94045575hg38UCSC Ensembl
Outerchr5:94043804..94045623hg38UCSC Ensembl
chr5:93379533..93381304hg19UCSC Ensembl
Innerchr5:93379557..93381280hg19UCSC Ensembl
Outerchr5:93379509..93381328hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381772
hg191772
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605814
Supporting Variants
SamplesNA19091
Known GenesFAM172A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11981479
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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