A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735210



Internal ID10318846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:137770403..137770932hg38UCSC Ensembl
Outerchr7:137455149..137455678hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6719784, essv6855762, essv6927125, essv6834110, essv6814648, essv6884494, essv6746190, essv6964128, essv6919224, essv6873050, essv6811595, essv6676928, essv6845238, essv6861311, essv6715860, essv6708734, essv6907951, essv6805736, essv6964303, essv6870062, essv6671668, essv6687561, essv6743411, essv6948171, essv6782556
SamplesSSM027, SSM024, SSM087, SSM074, SSM088, SSM041, SSM090, SSM017, SSM019, SSM035, SSM032, SSM031, SSM044, SSM014, SSM085, SSM068, SSM082, SSM053, SSM077, SSM076, SSM091, SSM055, SSM095, SSM004, SSM043
Known GenesDGKI
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)esv2735210
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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