A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727306



Internal ID9961615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:24964776..24965530hg38UCSC Ensembl
Outerchr4:24966398..24967152hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38755
hg19755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6813837, essv6689936, essv6762295, essv6794106, essv6785831, essv6934125, essv6726585, essv6697538
SamplesSSM036, SSM071, SSM046, SSM038, SSM021, SSM069, SSM062, SSM077
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)esv2727306
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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