A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729446



Internal ID10313082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1229736..1230226hg38UCSC Ensembl
Outerchr5:1229851..1230341hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38491
hg19491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv916e201
Supporting Variantsessv6676251, essv6770512, essv6715236, essv6670651, essv6938708
SamplesSSM065, SSM032, SSM031, SSM022, SSM043
Known GenesSLC6A18
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)esv2729446
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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