A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720486



Internal ID9954782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:106273940..106274182hg38UCSC Ensembl
Outerchr2:106890396..106890638hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853768, essv6819342, essv6748050, essv6739128, essv6950921, essv6736250
SamplesSSM087, SSM050, SSM010, SSM025, SSM052, SSM056
Known Genes
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)esv2720486
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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