A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721626



Internal ID9955923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232338955..232449753hg38UCSC Ensembl
Outerchr2:233203665..233314463hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38110799
hg19110799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv632e201
Supporting Variantsessv6953962, essv6769999, essv6869077, essv6853041, essv6892738, essv6804780, essv6933799, essv6722377, essv6889424, essv6679629, essv6917918, essv6759404, essv6667129, essv6700131, essv6762122, essv6829434, essv6864545, essv6700133, essv6883594, essv6910528, essv6880757, essv6750958, essv6773878, essv6807757, essv6722442, essv6698586, essv6878002, essv6793779, essv6759405, essv6875074, essv6752764, essv6853958, essv6933800, essv6762121, essv6807756, essv6745290
SamplesSSM008, SSM071, SSM075, SSM045, SSM065, SSM087, SSM097, SSM039, SSM093, SSM074, SSM057, SSM092, SSM090, SSM021, SSM061, SSM062, SSM089, SSM017, SSM094, SSM001, SSM033, SSM066, SSM006, SSM081, SSM007, SSM015, SSM055, SSM095, SSM004, SSM098, SSM030
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
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)esv2721626
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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