A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727813



Internal ID10311449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:72399870..72400105hg38UCSC Ensembl
Outerchr4:73265587..73265822hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6968852, essv6860214, essv6893062, essv6854490, essv6947350, essv6829746, essv6700515, essv6956180, essv6881060, essv6734034, essv6848343, essv6722810, essv6700787, essv6686836, essv6865004, essv6676041, essv6670322, essv6886614, essv6926412, essv6817570, essv6922616, essv6836990, essv6973899, essv6906978, essv6910867, essv6918817, essv6929980
SamplesSSM083, SSM024, SSM045, SSM087, SSM039, SSM088, SSM028, SSM018, SSM029, SSM096, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM031, SSM001, SSM014, SSM086, SSM006, SSM081, SSM020, SSM015, SSM078, SSM098, SSM049
Known GenesADAMTS3
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)esv2727813
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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