A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734294



Internal ID10317930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:39340534..39340984hg38UCSC Ensembl
Outerchr7:39380133..39380583hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6845150, essv6889955, essv6907813, essv6751793, essv6935019, essv6930762, essv6875925, essv6881599, essv6861152, essv6964134, essv6930705
SamplesSSM027, SSM088, SSM057, SSM092, SSM021, SSM094, SSM003, SSM014, SSM085, SSM020, SSM012
Known GenesPOU6F2
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)esv2734294
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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