A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715862



Internal ID9950149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:107574910..107575061hg38UCSC Ensembl
Outerchr1:108117532..108117683hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6773521
SamplesSSM066
Known GenesVAV3
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)esv2715862
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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