A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735315



Internal ID10318951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148330120..148330944hg38UCSC Ensembl
Outerchr7:148027212..148028036hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38825
hg19825
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6701495, essv6830539, essv6935132, essv6943870, essv6915398, essv6731243, essv6964336, essv6795059
SamplesSSM071, SSM027, SSM039, SSM023, SSM021, SSM047, SSM081, SSM016
Known GenesCNTNAP2, MIR548T
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)esv2735315
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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