A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11105127



Internal ID6074690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112837697..112838280hg38UCSC Ensembl
Innerchr3:112837697..112838280hg38UCSC Ensembl
Outerchr3:112837360..112838533hg38UCSC Ensembl
chr3:112556544..112557127hg19UCSC Ensembl
Innerchr3:112556544..112557127hg19UCSC Ensembl
Outerchr3:112556207..112557380hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38584
hg19584
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597423
Supporting Variants
SamplesNA19462
Known GenesCD200R1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11105127
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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