A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12035873



Internal ID3536424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119836209..119843458hg38UCSC Ensembl
Innerchr5:119836218..119843450hg38UCSC Ensembl
Outerchr5:119836201..119843467hg38UCSC Ensembl
chr5:119171904..119179153hg19UCSC Ensembl
Innerchr5:119171913..119179145hg19UCSC Ensembl
Outerchr5:119171896..119179162hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg387250
hg197250
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606499
Supporting Variants
SamplesHG03126
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12035873
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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