A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735684



Internal ID10319320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:157437980..157438206hg38UCSC Ensembl
Outerchr7:157230674..157230900hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6698190, essv6849788, essv6855842, essv6690845
SamplesSSM036, SSM087, SSM038, SSM086
Known Genes
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)esv2735684
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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