A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733670



Internal ID10317306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:864685..864839hg38UCSC Ensembl
Outerchr7:904322..904476hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6969566, essv6952086, essv6930240, essv6799052, essv6794846, essv6771003, essv6849402, essv6964030, essv6930634, essv6727292, essv6723417, essv6676752, essv6826589, essv6833945, essv6957327, essv6719606, essv6778374, essv6786592, essv6822608, essv6671395, essv6782402
SamplesSSM071, SSM027, SSM045, SSM046, SSM079, SSM065, SSM028, SSM069, SSM026, SSM032, SSM003, SSM031, SSM067, SSM044, SSM086, SSM068, SSM072, SSM082, SSM020, SSM080, SSM025
Known GenesSUN1
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)esv2733670
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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