A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12254032



Internal ID2255848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31163674..31304530hg38UCSC Ensembl
chr6:31131451..31272307hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38140857
hg19140857
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608531
Supporting Variants
SamplesHG02493
Known GenesHCG27, HLA-C, POU5F1, PSORS1C3, TCF19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12254032
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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