A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11730305



Internal ID2902028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:181296087..181298083hg38UCSC Ensembl
Innerchr4:181296116..181298054hg38UCSC Ensembl
Outerchr4:181296058..181298112hg38UCSC Ensembl
chr4:182217240..182219236hg19UCSC Ensembl
Innerchr4:182217269..182219207hg19UCSC Ensembl
Outerchr4:182217211..182219265hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg381997
hg191997
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603406
Supporting Variants
SamplesHG02571
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11730305
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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