A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725789



Internal ID10309425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:114938067..114949723hg38UCSC Ensembl
Outerchr3:114656914..114668570hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3811657
hg1911657
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6736438, essv6766975, essv6880870, essv6872181, essv6869162, essv6905151, essv6837375
SamplesSSM064, SSM050, SSM002, SSM090, SSM094, SSM001, SSM091
Known GenesZBTB20
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)esv2725789
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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