A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13963423



Internal ID2644632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:125031175..125037105hg38UCSC Ensembl
Innerchr10:125031175..125037105hg38UCSC Ensembl
Outerchr10:125031025..125037534hg38UCSC Ensembl
chr10:126719744..126725674hg19UCSC Ensembl
Innerchr10:126719744..126725674hg19UCSC Ensembl
Outerchr10:126719594..126726103hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg385931
hg195931
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624823
Supporting Variants
SamplesHG02339
Known GenesCTBP2, MIR4296
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13963423
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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