A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13302218



Internal ID4753257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:118720634..118722132hg38UCSC Ensembl
Innerchr8:118720663..118722103hg38UCSC Ensembl
Outerchr8:118720605..118722161hg38UCSC Ensembl
chr8:119732873..119734371hg19UCSC Ensembl
Innerchr8:119732902..119734342hg19UCSC Ensembl
Outerchr8:119732844..119734400hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg381499
hg191499
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618578
Supporting Variants
SamplesNA10847
Known GenesSAMD12-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13302218
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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