A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13890787



Internal ID3892603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:89451431..89457357hg38UCSC Ensembl
Innerchr10:89451452..89457336hg38UCSC Ensembl
Outerchr10:89451410..89457378hg38UCSC Ensembl
chr10:91211188..91217114hg19UCSC Ensembl
Innerchr10:91211209..91217093hg19UCSC Ensembl
Outerchr10:91211167..91217135hg19UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg385927
hg195927
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624159
Supporting Variants
SamplesNA20775
Known GenesSLC16A12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13890787
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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