A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5821744



Internal ID8799147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:5690084..5693490hg38UCSC Ensembl
Outerchr2:5689713..5693860hg38UCSC Ensembl
Innerchr2:5830216..5833622hg19UCSC Ensembl
Outerchr2:5829845..5833992hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg384148
hg194148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663948
Supporting Variants
SamplesHG00590
Known GenesSOX11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5821744
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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