A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14798471



Internal ID4800287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75615888..75621625hg38UCSC Ensembl
Innerchr13:75615888..75621625hg38UCSC Ensembl
Outerchr13:75615388..75622125hg38UCSC Ensembl
chr13:76190024..76195761hg19UCSC Ensembl
Innerchr13:76190024..76195761hg19UCSC Ensembl
Outerchr13:76189524..76196261hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg385738
hg195738
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632750
Supporting Variants
SamplesNA18939
Known GenesLMO7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14798471
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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