A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734119



Internal ID10317755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:22163135..22163219hg38UCSC Ensembl
Outerchr7:22202753..22202837hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849456, essv6957395, essv6855552, essv6861118
SamplesSSM087, SSM088, SSM026, SSM086
Known GenesRAPGEF5
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)esv2734119
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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