A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721701



Internal ID10305337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:236239066..236239850hg38UCSC Ensembl
Outerchr2:237147709..237148493hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38785
hg19785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6917924, essv6704257, essv6920906, essv6954006, essv6833023, essv6669747, essv6840439, essv6736349, essv6942353, essv6789653, essv6752831, essv6711045, essv6781385, essv6801968, essv6807760, essv6898995, essv6872088, essv6777400, essv6902973, essv6853966, essv6813568, essv6770006, essv6836635, essv6929590, essv6875076, essv6793786, essv6700140, essv6869081, essv6914377, essv6689694, essv6759408, essv6968463
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM075, SSM065, SSM087, SSM039, SSM013, SSM073, SSM050, SSM042, SSM023, SSM028, SSM092, SSM084, SSM090, SSM061, SSM017, SSM003, SSM031, SSM067, SSM068, SSM040, SSM082, SSM020, SSM016, SSM077, SSM091, SSM070, SSM004
Known GenesASB18
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)esv2721701
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer