A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735049



Internal ID9969379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:114313422..114313758hg38UCSC Ensembl
Outerchr7:113953477..113953813hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6907932, essv6855735, essv6708716, essv6890503, essv6822756, essv6818627, essv6684297, essv6884483, essv6826746, essv6795013, essv6943819, essv6870049, essv6723570, essv6671636, essv6948149, essv6834100, essv6957578, essv6923395, essv6837764, essv6866003, essv6782536, essv6952254, essv6899974
SamplesSSM100, SSM083, SSM071, SSM024, SSM045, SSM079, SSM087, SSM097, SSM041, SSM023, SSM090, SSM018, SSM026, SSM089, SSM031, SSM014, SSM068, SSM082, SSM078, SSM080, SSM095, SSM025, SSM034
Known GenesFOXP2
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)esv2735049
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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