A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747700



Internal ID10328670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:78628870..78634370hg38UCSC Ensembl
Outerchr13:79203005..79208505hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg385501
hg195501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6728500, essv6668311, essv6932049
SamplesSSM046, SSM020, SSM030
Known GenesRNF219
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)esv2747700
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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