A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12694174



Internal ID1062949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:22097356..22312384hg38UCSC Ensembl
chr7:22136974..22352003hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38215029
hg19215030
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612511
Supporting Variants
SamplesHG00689
Known GenesRAPGEF5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12694174
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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