A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743864



Internal ID9978148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12830768..12888583hg38UCSC Ensembl
Outerchr1:12890623..12948407hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3857816
hg1957785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6e201
Supporting Variantsessv6847008, essv6669166, essv6910037, essv6784532, essv6843798, essv6675195, essv6863951, essv6742134, essv6793278, essv6917420, essv6807370, essv6764156, essv6950547, essv6668942
SamplesSSM071, SSM075, SSM011, SSM009, SSM089, SSM017, SSM032, SSM031, SSM086, SSM015, SSM053, SSM005, SSM025, SSM063
Known GenesHNRNPCL1, LOC649330, PRAMEF11, PRAMEF2, PRAMEF4
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)esv2743864
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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