A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728716



Internal ID9963031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:168693111..168693217hg38UCSC Ensembl
Outerchr4:169614262..169614368hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6854655, essv6817737, essv6848530, essv6860360
SamplesSSM086, SSM078, SSM088, SSM087
Known GenesPALLD
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)esv2728716
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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