A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721009



Internal ID9955305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:156490778..156491151hg38UCSC Ensembl
Outerchr2:157347290..157347663hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847667, essv6917856, essv6938094, essv6942263
SamplesSSM022, SSM086, SSM017, SSM023
Known GenesGPD2
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)esv2721009
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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