A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734923



Internal ID9969253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:101036815..101037095hg38UCSC Ensembl
Outerchr7:100680096..100680376hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6865984, essv6698128, essv6849651
SamplesSSM038, SSM089, SSM086
Known GenesMUC17
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)esv2734923
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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