A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13968229



Internal ID2037403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:126992061..127009580hg38UCSC Ensembl
chr10:128790325..128807844hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3817520
hg1917520
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624871
Supporting Variants
SamplesHG01867
Known GenesDOCK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13968229
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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