A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13104154



Internal ID3921179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11720200..11723499hg38UCSC Ensembl
Innerchr8:11720204..11723496hg38UCSC Ensembl
Outerchr8:11720197..11723503hg38UCSC Ensembl
chr8:11577709..11581008hg19UCSC Ensembl
Innerchr8:11577713..11581005hg19UCSC Ensembl
Outerchr8:11577706..11581012hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616257
Supporting Variants
SamplesHG03575
Known GenesGATA4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13104154
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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