A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589934



Internal ID6977264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16751280..16756499hg38UCSC Ensembl
Innerchr2:16751280..16756499hg38UCSC Ensembl
Outerchr2:16750780..16756999hg38UCSC Ensembl
chr2:16932547..16937766hg19UCSC Ensembl
Innerchr2:16932547..16937766hg19UCSC Ensembl
Outerchr2:16932047..16938266hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg385220
hg195220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10420072, essv10420071, essv10420070, essv10420069, essv10420074, essv10420073
SamplesNA19703, HG02337, NA20320, HG01527, HG01880, HG03240
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589934
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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