A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730134



Internal ID9964450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42563911..42564436hg38UCSC Ensembl
Outerchr5:42564013..42564538hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6742939, essv6822234, essv6860519, essv6824155, essv6829959
SamplesSSM010, SSM053, SSM088, SSM079, SSM081
Known GenesGHR
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2730134
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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