A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728717



Internal ID9963032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:168698289..168700102hg38UCSC Ensembl
Outerchr4:169619440..169621253hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg381814
hg191814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6910948, essv6680060, essv6922715, essv6881148, essv6786018
SamplesSSM033, SSM094, SSM069, SSM015, SSM018
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)esv2728717
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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