A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734914



Internal ID9969244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:101034234..101036898hg38UCSC Ensembl
Outerchr7:100677515..100680179hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382665
hg192665
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1109e201
Supporting Variantsessv6698127, essv6911642, essv6715838, essv6762823, essv6771127, essv6890587, essv6790852, essv6845215, essv6805701, essv6786746, essv6830479, essv6855713, essv6715837, essv6849650, essv6939355, essv6890485, essv6841546, essv6757608, essv6948139, essv6963951, essv6680704, essv6828309, essv6964248, essv6878855, essv6705331, essv6957553, essv6915339, essv6715836
SamplesSSM059, SSM027, SSM024, SSM065, SSM087, SSM038, SSM097, SSM093, SSM074, SSM084, SSM069, SSM062, SSM026, SSM086, SSM033, SSM085, SSM081, SSM040, SSM015, SSM016, SSM022, SSM010, SSM070, SSM004, SSM043, SSM012
Known GenesMUC17
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)esv2734914
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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