A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11238199



Internal ID4437243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:177934475..177936770hg38UCSC Ensembl
Innerchr3:177934476..177936769hg38UCSC Ensembl
Outerchr3:177934474..177936771hg38UCSC Ensembl
chr3:177652263..177654558hg19UCSC Ensembl
Innerchr3:177652264..177654557hg19UCSC Ensembl
Outerchr3:177652262..177654559hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg382296
hg192296
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598808
Supporting Variants
SamplesHG03947
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11238199
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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