A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6930233



Internal ID10039762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:52935966..52936271hg38UCSC Ensembl
Outerchr5:52231796..52232101hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730175, esv2730176
Supporting Variants
SamplesSSM020
Known GenesITGA1
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)essv6930233
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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