A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11105470



Internal ID1107286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112896541..112926195hg38UCSC Ensembl
Innerchr3:112896572..112926164hg38UCSC Ensembl
Outerchr3:112896510..112926226hg38UCSC Ensembl
chr3:112615388..112645042hg19UCSC Ensembl
Innerchr3:112615419..112645011hg19UCSC Ensembl
Outerchr3:112615357..112645073hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3829655
hg1929655
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597428
Supporting Variants
SamplesHG02012
Known GenesCD200R1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11105470
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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