A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621058



Internal ID7007928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:91255540..91257390hg38UCSC Ensembl
Innerchr9:91255540..91257390hg38UCSC Ensembl
Outerchr9:91255311..91257642hg38UCSC Ensembl
chr9:94017822..94019672hg19UCSC Ensembl
Innerchr9:94017822..94019672hg19UCSC Ensembl
Outerchr9:94017593..94019924hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg381851
hg191851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13555530, essv13555533, essv13555536, essv13555535, essv13555534, essv13555529, essv13555537, essv13555528, essv13555531, essv13555532, essv13555538
SamplesHG02852, NA19350, HG02769, HG03040, NA20342, NA19225, NA20276, HG01396, NA19475, NA19376, NA19312
Known GenesAUH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621058
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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