A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11156436



Internal ID1158252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134967928..134969870hg38UCSC Ensembl
Innerchr3:134967928..134969870hg38UCSC Ensembl
Outerchr3:134967659..134970173hg38UCSC Ensembl
chr3:134686770..134688712hg19UCSC Ensembl
Innerchr3:134686770..134688712hg19UCSC Ensembl
Outerchr3:134686501..134689015hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg381943
hg191943
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597860
Supporting Variants
SamplesNA19435
Known GenesEPHB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11156436
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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