A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14330092



Internal ID4331908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:759212..765324hg38UCSC Ensembl
chr12:868378..874490hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg386113
hg196113
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628254
Supporting Variants
SamplesHG04144
Known GenesWNK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14330092
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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