A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714524



Internal ID9948808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:57197826..57197997hg38UCSC Ensembl
Outerchr16:57231738..57231909hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665576, essv6852088
SamplesSSM086, SSM029
Known GenesRSPRY1
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)esv2714524
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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