A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593902



Internal ID6981224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197199802..197204904hg38UCSC Ensembl
Innerchr2:197199802..197204904hg38UCSC Ensembl
Outerchr2:197199550..197205164hg38UCSC Ensembl
chr2:198064526..198069628hg19UCSC Ensembl
Innerchr2:198064526..198069628hg19UCSC Ensembl
Outerchr2:198064274..198069888hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385103
hg195103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10815738, essv10815739
SamplesHG00879, HG01841
Known GenesANKRD44
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593902
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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