A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11009359



Internal ID1256635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49196996..49201248hg38UCSC Ensembl
Innerchr3:49196996..49201248hg38UCSC Ensembl
Outerchr3:49196948..49201346hg38UCSC Ensembl
chr3:49234429..49238681hg19UCSC Ensembl
Innerchr3:49234429..49238681hg19UCSC Ensembl
Outerchr3:49234381..49238779hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384253
hg194253
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596121
Supporting Variants
SamplesHG01107
Known GenesCCDC36
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11009359
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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