A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10433099



Internal ID4627709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25087997..25090084hg38UCSC Ensembl
Innerchr2:25088019..25090062hg38UCSC Ensembl
Outerchr2:25087975..25090106hg38UCSC Ensembl
chr2:25310866..25312953hg19UCSC Ensembl
Innerchr2:25310888..25312931hg19UCSC Ensembl
Outerchr2:25310844..25312975hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382088
hg192088
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590087
Supporting Variants
SamplesHG04159
Known GenesEFR3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10433099
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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