A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617258



Internal ID7004144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54576064..54577130hg38UCSC Ensembl
Innerchr8:54576064..54577130hg38UCSC Ensembl
Outerchr8:54575923..54577269hg38UCSC Ensembl
chr8:55488624..55489690hg19UCSC Ensembl
Innerchr8:55488624..55489690hg19UCSC Ensembl
Outerchr8:55488483..55489829hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg381067
hg191067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13203533
SamplesHG01134
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617258
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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