A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592549



Internal ID6979876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134036360..134047422hg38UCSC Ensembl
Innerchr2:134036860..134046922hg38UCSC Ensembl
Outerchr2:134035360..134048422hg38UCSC Ensembl
chr2:134793931..134804993hg19UCSC Ensembl
Innerchr2:134794431..134804493hg19UCSC Ensembl
Outerchr2:134792931..134805993hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3811063
hg1911063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10682399, essv10682401, essv10682391, essv10682400, essv10682393, essv10682395, essv10682392, essv10682396, essv10682397, essv10682394, essv10682398
SamplesHG03559, HG03280, NA18519, HG03091, HG03370, NA19707, HG02322, HG03567, HG02501, NA19428, NA19316
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592549
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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