A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719672



Internal ID10303308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:11538377..11538836hg38UCSC Ensembl
Outerchr2:11678503..11678962hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38460
hg19460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6807580, essv6961987, essv6836457, essv6937962, essv6829249, essv6898819, essv6868927, essv6675470, essv6917720, essv6689507, essv6864289, essv6720844, essv6952473, essv6871921, essv6844107, essv6929372, essv6785295, essv6813413, essv6853640, essv6714524, essv6671343, essv6683056, essv6718432, essv6950833, essv6704096, essv6667031, essv6789464
SamplesSSM100, SSM036, SSM083, SSM027, SSM075, SSM087, SSM090, SSM069, SSM089, SSM017, SSM032, SSM044, SSM085, SSM081, SSM040, SSM020, SSM007, SSM005, SSM077, SSM022, SSM091, SSM070, SSM025, SSM034, SSM004, SSM043, SSM030
Known GenesGREB1
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)esv2719672
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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