A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6483145



Internal ID9606298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:58217135..58220076hg38UCSC Ensembl
Outerchr2:58217098..58220126hg38UCSC Ensembl
Innerchr2:58444270..58447211hg19UCSC Ensembl
Outerchr2:58444233..58447261hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg383029
hg193029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662829
Supporting Variants
SamplesNA19256
Known GenesFANCL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6483145
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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