A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730091



Internal ID9964407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:37853192..37853784hg38UCSC Ensembl
Outerchr5:37853294..37853886hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38593
hg19593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6922832, essv6969125, essv6826143, essv6786158
SamplesSSM028, SSM018, SSM069, SSM080
Known GenesGDNF-AS1
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)esv2730091
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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