A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720431



Internal ID10304067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:99251910..99252300hg38UCSC Ensembl
Outerchr2:99868373..99868763hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793672, essv6962101, essv6750871, essv6714591, essv6879821, essv6721454, essv6819298, essv6704164, essv6742411, essv6910415, essv6762049, essv6929460, essv6773774, essv6759319, essv6942203, essv6933681, essv6825357, essv6902856, essv6710928, essv6816984, essv6753772, essv6853759, essv6689589, essv6697237, essv6807638, essv6898880, essv6917791, essv6925994, essv6697920, essv6751720, essv6972980, essv6736246, essv6922109, essv6822265, essv6868988, essv6718499, essv6756785, essv6764399, essv6829324, essv6968336, essv6784153, essv6679523, essv6938043, essv6889302, essv6739122, essv6745195
SamplesSSM100, SSM059, SSM036, SSM008, SSM071, SSM027, SSM075, SSM087, SSM038, SSM097, SSM013, SSM050, SSM042, SSM002, SSM057, SSM023, SSM058, SSM028, SSM090, SSM021, SSM018, SSM061, SSM029, SSM062, SSM017, SSM019, SSM044, SSM001, SSM033, SSM066, SSM006, SSM081, SSM040, SSM020, SSM007, SSM015, SSM078, SSM053, SSM080, SSM022, SSM010, SSM055, SSM043, SSM052, SSM063, SSM012
Known GenesLYG2
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)esv2720431
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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