A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10517669



Internal ID2837910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:58217082..58220171hg38UCSC Ensembl
Innerchr2:58217082..58220171hg38UCSC Ensembl
Outerchr2:58216823..58220356hg38UCSC Ensembl
chr2:58444217..58447306hg19UCSC Ensembl
Innerchr2:58444217..58447306hg19UCSC Ensembl
Outerchr2:58443958..58447491hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg383090
hg193090
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590956
Supporting Variants
SamplesHG02502
Known GenesFANCL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10517669
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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