A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11306753



Internal ID1308569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196227560..196295937hg38UCSC Ensembl
chr3:195954431..196022808hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3868378
hg1968378
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599276
Supporting Variants
SamplesHG04209
Known GenesPCYT1A, SLC51A, TCTEX1D2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11306753
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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