A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722783



Internal ID9957083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:216377527..216378296hg38UCSC Ensembl
Outerchr1:216550869..216551638hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38770
hg19770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825152, essv6950720, essv6682969, essv6729783, essv6972645
SamplesSSM047, SSM029, SSM080, SSM025, SSM034
Known GenesUSH2A
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)esv2722783
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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