A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592474



Internal ID6979801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131333407..131384799hg38UCSC Ensembl
chr2:132090980..132142372hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3851393
hg1951393
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10674119, essv10674118, essv10674117, essv10674116
SamplesHG02489, HG00154, HG01257, HG01600
Known GenesWTH3DI
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592474
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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