A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11337974



Internal ID1339790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8229163..8230438hg38UCSC Ensembl
Innerchr4:8229180..8230421hg38UCSC Ensembl
Outerchr4:8229146..8230455hg38UCSC Ensembl
chr4:8230890..8232165hg19UCSC Ensembl
Innerchr4:8230907..8232148hg19UCSC Ensembl
Outerchr4:8230873..8232182hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381276
hg191276
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599543
Supporting Variants
SamplesNA18879
Known GenesSH3TC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11337974
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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