A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589930



Internal ID6630219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16571360..16573119hg38UCSC Ensembl
Innerchr2:16571414..16573066hg38UCSC Ensembl
Outerchr2:16571307..16573173hg38UCSC Ensembl
chr2:16752628..16754387hg19UCSC Ensembl
Innerchr2:16752682..16754334hg19UCSC Ensembl
Outerchr2:16752575..16754441hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg381760
hg191760
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10420025
SamplesNA21135
Known GenesFAM49A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589930
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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