A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735135



Internal ID10318771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128219662..128220613hg38UCSC Ensembl
Outerchr7:127859715..127860666hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38952
hg19952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6911661, essv6897012
SamplesSSM015, SSM099
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)esv2735135
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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