A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735188



Internal ID10318824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:135443967..135452395hg38UCSC Ensembl
Outerchr7:135128715..135137143hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg388429
hg198429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6952266, essv6767817, essv6858265, essv6723579, essv6687557, essv6890522, essv6948168, essv6731265, essv6939383, essv6830508, essv6782553, essv6964297, essv6969770, essv6927124, essv6897019, essv6878875, essv6855759, essv6887295, essv6771157, essv6884493, essv6708730, essv6826768
SamplesSSM027, SSM024, SSM045, SSM011, SSM064, SSM065, SSM087, SSM097, SSM093, SSM041, SSM028, SSM096, SSM019, SSM035, SSM068, SSM081, SSM007, SSM080, SSM022, SSM095, SSM025, SSM099
Known GenesCNOT4
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)esv2735188
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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