A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11009356



Internal ID1011172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49180607..49195738hg38UCSC Ensembl
Innerchr3:49181107..49195238hg38UCSC Ensembl
Outerchr3:49179607..49196738hg38UCSC Ensembl
chr3:49218040..49233171hg19UCSC Ensembl
Innerchr3:49218540..49232671hg19UCSC Ensembl
Outerchr3:49217040..49234171hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3815132
hg1915132
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596119
Supporting Variants
SamplesHG02274
Known GenesC3orf84
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11009356
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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