A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733675



Internal ID9967999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:893283..893781hg38UCSC Ensembl
Outerchr7:932920..933418hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6841423, essv6826590, essv6893685, essv6786593, essv6723418, essv6799053, essv6903884, essv6915219, essv6919029
SamplesSSM013, SSM084, SSM072, SSM016, SSM045, SSM017, SSM069, SSM098, SSM080
Known GenesGET4
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)esv2733675
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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