A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13956062



Internal ID995483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:122584915..122593721hg38UCSC Ensembl
chr10:124344431..124353237hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg388807
hg198807
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624778
Supporting Variants
SamplesHG00622
Known GenesDMBT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13956062
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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