A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6904105



Internal ID10015779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:156120505..156121027hg38UCSC Ensembl
Outerchr7:155913199..155913721hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735614
Supporting Variants
SamplesSSM013
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)essv6904105
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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