A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6594149



Internal ID9573673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4997281..4999500hg38UCSC Ensembl
chr2:5137414..5139633hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg382220
hg192220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2663260
Supporting Variants
SamplesNA19137
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6594149
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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