A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588119



Internal ID6975543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184002572..184007638hg38UCSC Ensembl
chr1:183971706..183976772hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385067
hg195067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10210998, essv10210999, essv10210996, essv10210997
SamplesHG02702, HG03048, HG01108, HG02629
Known GenesCOLGALT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588119
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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