A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6841544



Internal ID9894186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100972200..100972399hg38UCSC Ensembl
Outerchr7:100615481..100615680hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734907, esv2734888
Supporting Variants
SamplesSSM084
Known GenesMUC12
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)essv6841544
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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