A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13968408



Internal ID5117300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:127367128..127369421hg38UCSC Ensembl
Innerchr10:127367128..127369421hg38UCSC Ensembl
Outerchr10:127366988..127369575hg38UCSC Ensembl
chr10:129165392..129167685hg19UCSC Ensembl
Innerchr10:129165392..129167685hg19UCSC Ensembl
Outerchr10:129165252..129167839hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg382294
hg192294
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624879
Supporting Variants
SamplesNA18561
Known GenesDOCK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13968408
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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