A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734887



Internal ID9969217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99697899..99750491hg38UCSC Ensembl
Outerchr7:99295522..99348114hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3852593
hg1952593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6794993, essv6890481, essv6676891, essv6808669, essv6705326, essv6811562, essv6849645, essv6671614, essv6861262, essv6822737
SamplesSSM071, SSM075, SSM079, SSM097, SSM088, SSM032, SSM031, SSM086, SSM040, SSM076
Known GenesCYP3A7, CYP3A7-CYP3AP1
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)esv2734887
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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