A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593899



Internal ID6981221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197028626..197031191hg38UCSC Ensembl
Innerchr2:197028629..197031189hg38UCSC Ensembl
Outerchr2:197028624..197031194hg38UCSC Ensembl
chr2:197893350..197895915hg19UCSC Ensembl
Innerchr2:197893353..197895913hg19UCSC Ensembl
Outerchr2:197893348..197895918hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382566
hg192566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10815734, essv10815733
SamplesHG02360, HG02397
Known GenesANKRD44
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593899
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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