A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734248



Internal ID9968575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:35886215..35974099hg38UCSC Ensembl
Outerchr7:35925825..36013709hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3887885
hg1987885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6767729, essv6727347, essv6919101, essv6705246, essv6893734, essv6930707, essv6903938, essv6927028, essv6719652, essv6748921
SamplesSSM013, SSM040, SSM064, SSM056, SSM017, SSM003, SSM046, SSM019, SSM044, SSM098
Known GenesSEPT7
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)esv2734248
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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