A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593374



Internal ID6633654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172743617..172750562hg38UCSC Ensembl
Innerchr2:172743630..172750549hg38UCSC Ensembl
Outerchr2:172743604..172750575hg38UCSC Ensembl
chr2:173608345..173615290hg19UCSC Ensembl
Innerchr2:173608358..173615277hg19UCSC Ensembl
Outerchr2:173608332..173615303hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386946
hg196946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10762758
SamplesHG03653
Known GenesRAPGEF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593374
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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