A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10210996



Internal ID1258914
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588119
Supporting Variants
SamplesHG01108
Known GenesCOLGALT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10210996
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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