A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597862



Internal ID6638129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:135003803..135029125hg38UCSC Ensembl
Innerchr3:135003953..135028975hg38UCSC Ensembl
Outerchr3:135003653..135029275hg38UCSC Ensembl
chr3:134722645..134747967hg19UCSC Ensembl
Innerchr3:134722795..134747817hg19UCSC Ensembl
Outerchr3:134722495..134748117hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg3825323
hg1925323
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv939e214
Supporting Variantsessv11156438
SamplesHG02737
Known GenesEPHB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597862
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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