A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14441699



Internal ID4750825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:33365136..33425922hg38UCSC Ensembl
chr12:33518071..33578857hg19UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3860787
hg1960787
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629111
Supporting Variants
SamplesNA07357
Known GenesSYT10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14441699
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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