A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6597110



Internal ID9574513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173024192..173024516hg38UCSC Ensembl
chr2:173888920..173889244hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2678314
Supporting Variants
SamplesNA19676
Known GenesRAPGEF4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6597110
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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