A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735063



Internal ID10318699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:117201968..117202270hg38UCSC Ensembl
Outerchr7:116842022..116842324hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6907933, essv6782538, essv6890505, essv6795014, essv6855737, essv6870050, essv6708717, essv6826748, essv6671637, essv6861286, essv6818629, essv6858120, essv6964271, essv6866005, essv6687542, essv6975391, essv6957580, essv6811579, essv6849674
SamplesSSM071, SSM027, SSM011, SSM087, SSM097, SSM088, SSM041, SSM090, SSM029, SSM026, SSM089, SSM035, SSM031, SSM014, SSM086, SSM068, SSM078, SSM080, SSM076
Known GenesST7, ST7-OT3
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)esv2735063
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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