A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721733



Internal ID10305369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237592805..237593384hg38UCSC Ensembl
Outerchr2:238501448..238502027hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38580
hg19580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6817161, essv6669752, essv6675674, essv6962337, essv6864558, essv6753883, essv6880763, essv6859775, essv6973257
SamplesSSM027, SSM088, SSM058, SSM029, SSM089, SSM094, SSM032, SSM031, SSM078
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)esv2721733
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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