A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12332881



Internal ID2334697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44325872..44351712hg38UCSC Ensembl
chr6:44293609..44319449hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3825841
hg1925841
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608827
Supporting Variants
SamplesNA19764
Known GenesSPATS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12332881
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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