A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10481762



Internal ID1281752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43320582..43342303hg38UCSC Ensembl
Innerchr2:43321082..43341803hg38UCSC Ensembl
Outerchr2:43319582..43343303hg38UCSC Ensembl
chr2:43547721..43569442hg19UCSC Ensembl
Innerchr2:43548221..43568942hg19UCSC Ensembl
Outerchr2:43546721..43570442hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3821722
hg1921722
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590527
Supporting Variants
SamplesHG01125
Known GenesTHADA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10481762
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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