A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11138272



Internal ID1106077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128551175..128552327hg38UCSC Ensembl
Innerchr3:128551175..128552327hg38UCSC Ensembl
Outerchr3:128550922..128552612hg38UCSC Ensembl
chr3:128270018..128271170hg19UCSC Ensembl
Innerchr3:128270018..128271170hg19UCSC Ensembl
Outerchr3:128269765..128271455hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381153
hg191153
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597709
Supporting Variants
SamplesHG00736
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11138272
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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