A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13211128



Internal ID1474687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60945278..60957162hg38UCSC Ensembl
Innerchr8:60945318..60957123hg38UCSC Ensembl
Outerchr8:60945239..60957202hg38UCSC Ensembl
chr8:61857837..61869721hg19UCSC Ensembl
Innerchr8:61857877..61869682hg19UCSC Ensembl
Outerchr8:61857798..61869761hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg3811885
hg1911885
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617379
Supporting Variants
SamplesHG01359
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13211128
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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