A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12188621



Internal ID1110835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:10726811..10754881hg38UCSC Ensembl
chr6:10727044..10755114hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg3828071
hg1928071
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608082
Supporting Variants
SamplesHG00739
Known GenesTMEM14B, TMEM14C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12188621
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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