A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6934125



Internal ID9696042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:24964776..24965507hg38UCSC Ensembl
Outerchr4:24966398..24967129hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38732
hg19732
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727306
Supporting Variants
SamplesSSM021
Known GenesCCDC149
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)essv6934125
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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