A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721146



Internal ID9955442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:173024210..173024508hg38UCSC Ensembl
Outerchr2:173888938..173889236hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859687, essv6973133, essv6785449, essv6683187, essv6675611
SamplesSSM088, SSM032, SSM029, SSM069, SSM034
Known GenesRAPGEF4
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)esv2721146
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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