A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6915264



Internal ID9679627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:34607966..34608605hg38UCSC Ensembl
Outerchr7:34647578..34648217hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38640
hg19640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734221, esv2734238, esv2734226
Supporting Variants
SamplesSSM016
Known GenesNPSR1-AS1
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)essv6915264
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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