A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721823



Internal ID10305459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239231467..239232120hg38UCSC Ensembl
Outerchr2:240153163..240153816hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv640e201
Supporting Variantsessv6973270, essv6669763, essv6711057, essv6955596, essv6853983, essv6753889, essv6962347, essv6878010, essv6793800, essv6933820, essv6675680, essv6880998, essv6942368, essv6938165, essv6679647, essv6848187, essv6752986, essv6689704, essv6929604, essv6722510
SamplesSSM036, SSM008, SSM071, SSM027, SSM011, SSM087, SSM093, SSM042, SSM023, SSM058, SSM021, SSM029, SSM026, SSM032, SSM031, SSM033, SSM020, SSM007, SSM022, SSM012
Known GenesHDAC4
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)esv2721823
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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