A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590615



Internal ID6630901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46740636..46751836hg38UCSC Ensembl
Innerchr2:46740636..46751836hg38UCSC Ensembl
Outerchr2:46740415..46752005hg38UCSC Ensembl
chr2:46967775..46978975hg19UCSC Ensembl
Innerchr2:46967775..46978975hg19UCSC Ensembl
Outerchr2:46967554..46979144hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3811201
hg1911201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10489577, essv10489575, essv10489574, essv10489576, essv10489579, essv10489580, essv10489578
SamplesHG03458, HG02981, NA19020, HG03130, HG03514, NA18504, NA18909
Known GenesSOCS5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590615
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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