A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730101



Internal ID10313737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:38820860..38821428hg38UCSC Ensembl
Outerchr5:38820962..38821530hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38569
hg19569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6711629, essv6875501, essv6903515, essv6848742, essv6926597, essv6881222, essv6886053, essv6844716, essv6930224, essv6770568, essv6869513, essv6860515, essv6956616, essv6726665, essv6774405
SamplesSSM065, SSM013, SSM042, SSM088, SSM092, SSM090, SSM026, SSM019, SSM094, SSM086, SSM066, SSM085, SSM020, SSM007, SSM012
Known Genes
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)esv2730101
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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