A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720606



Internal ID10304242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:117853164..117854305hg38UCSC Ensembl
Outerchr2:118610740..118611881hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg381142
hg191142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933701, essv6973015, essv6829336, essv6773789, essv6922123, essv6777297, essv6722342, essv6902871, essv6821535, essv6785389, essv6950932, essv6789556, essv6751897, essv6787666, essv6938057, essv6836541, essv6953195, essv6910430, essv6739138, essv6669557, essv6942219, essv6946851, essv6879932, essv6693181, essv6832921, essv6781263, essv6847600, essv6683139, essv6917809, essv6801894, essv6840340, essv6797845, essv6929476, essv6889316, essv6714609
SamplesSSM008, SSM083, SSM024, SSM045, SSM079, SSM097, SSM013, SSM009, SSM073, SSM023, SSM084, SSM021, SSM018, SSM069, SSM029, SSM017, SSM031, SSM067, SSM086, SSM066, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM037, SSM022, SSM070, SSM025, SSM034, SSM004, SSM043, SSM052, SSM012
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)esv2720606
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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