A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10211000



Internal ID2427049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184002572..184007638hg38UCSC Ensembl
chr1:183971706..183976772hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385067
hg195067
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588120
Supporting Variants
SamplesHG02142
Known GenesCOLGALT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10211000
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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