A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590956



Internal ID6978284
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10517668, essv10517667, essv10517673, essv10517670, essv10517669, essv10517672, essv10517678, essv10517666, essv10517676, essv10517677, essv10517674, essv10517671, essv10517675
SamplesNA19141, HG03111, NA18877, HG03521, HG03224, HG01110, HG03352, HG02502, NA19247, HG01882, HG01392, HG03064, NA19256
Known GenesFANCL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590956
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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