A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13976867



Internal ID2183549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:131110819..131114518hg38UCSC Ensembl
chr10:132909082..132912781hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624952
Supporting Variants
SamplesHG01971
Known GenesTCERG1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13976867
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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