A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721599



Internal ID10305235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230497216..230497807hg38UCSC Ensembl
Outerchr2:231361931..231362522hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38592
hg19592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6836628, essv6933793, essv6973231
SamplesSSM083, SSM021, SSM029
Known GenesSP100
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)esv2721599
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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