A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12092635



Internal ID2277158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148020480..148213612hg38UCSC Ensembl
chr5:147400043..147593175hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38193133
hg19193133
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607101
Supporting Variants
SamplesHG02032
Known GenesSPINK14, SPINK5, SPINK6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12092635
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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