A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13254121



Internal ID2660689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91278836..91290910hg38UCSC Ensembl
Innerchr8:91278899..91290847hg38UCSC Ensembl
Outerchr8:91278773..91290973hg38UCSC Ensembl
chr8:92291064..92303138hg19UCSC Ensembl
Innerchr8:92291127..92303075hg19UCSC Ensembl
Outerchr8:92291001..92303201hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3812075
hg1912075
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618020
Supporting Variants
SamplesHG02355
Known GenesSLC26A7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13254121
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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