A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618269



Internal ID7005151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:104074791..104075216hg38UCSC Ensembl
Innerchr8:104074792..104075216hg38UCSC Ensembl
Outerchr8:104074791..104075217hg38UCSC Ensembl
chr8:105087019..105087444hg19UCSC Ensembl
Innerchr8:105087020..105087444hg19UCSC Ensembl
Outerchr8:105087019..105087445hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13272009, essv13272018, essv13272012, essv13272010, essv13272016, essv13272004, essv13272017, essv13272005, essv13272019, essv13272007, essv13272008, essv13272002, essv13272006, essv13272015, essv13272013, essv13272011, essv13272014, essv13272003
SamplesNA21111, NA21089, HG04194, HG04211, NA20846, HG02792, HG03705, HG03976, NA20869, HG02780, NA21106, HG03775, NA21112, NA21123, NA21094, NA20888, NA20847, NA21104
Known GenesRIMS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618269
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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