A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6747806



Internal ID9810909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:37611331..37611906hg38UCSC Ensembl
Outerchr1:38076932..38077578hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38576
hg19647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747208
Supporting Variants
SamplesSSM056
Known GenesRSPO1
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)essv6747806
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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