A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726846



Internal ID9961154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2430033..2430526hg38UCSC Ensembl
Outerchr4:2431760..2432253hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38494
hg19494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6934070, essv6764632, essv6913040, essv6755087
SamplesSSM008, SSM021, SSM001, SSM063
Known GenesLOC402160
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)esv2726846
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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