A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12004909



Internal ID4463226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103703449..103713879hg38UCSC Ensembl
Innerchr5:103703465..103713864hg38UCSC Ensembl
Outerchr5:103703434..103713895hg38UCSC Ensembl
chr5:103039150..103049580hg19UCSC Ensembl
Innerchr5:103039166..103049565hg19UCSC Ensembl
Outerchr5:103039135..103049596hg19UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3810431
hg1910431
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606082
Supporting Variants
SamplesHG03968
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12004909
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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