A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11048850



Internal ID1050666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:77315058..77318783hg38UCSC Ensembl
Innerchr3:77315087..77318754hg38UCSC Ensembl
Outerchr3:77315029..77318812hg38UCSC Ensembl
chr3:77364209..77367934hg19UCSC Ensembl
Innerchr3:77364238..77367905hg19UCSC Ensembl
Outerchr3:77364180..77367963hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg383726
hg193726
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596658
Supporting Variants
SamplesHG01139
Known GenesROBO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11048850
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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