A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665334



Internal ID9584753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130678437..131285159hg38UCSC Ensembl
chr2:131436010..132042732hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38606723
hg19606723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv731e199
Supporting Variantsessv6583002
SamplesHG01354
Known GenesAMER3, ARHGEF4, CYP4F30P, FAM168B, GPR148, LOC440910, PLEKHB2, POTEE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665334
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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