A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11225684



Internal ID6110266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171842453..171846270hg38UCSC Ensembl
Innerchr3:171842467..171846256hg38UCSC Ensembl
Outerchr3:171842439..171846284hg38UCSC Ensembl
chr3:171560243..171564060hg19UCSC Ensembl
Innerchr3:171560257..171564046hg19UCSC Ensembl
Outerchr3:171560229..171564074hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg383818
hg193818
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598652
Supporting Variants
SamplesNA19651
Known GenesTMEM212
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11225684
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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