A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717773



Internal ID10301409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:150366905..150367712hg38UCSC Ensembl
Outerchr1:150339381..150340188hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38808
hg19808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6789251, essv6929169, essv6921841, essv6954912, essv6669126, essv6749531, essv6902628, essv6847189, essv6937780, essv6692881, essv6972544, essv6910158, essv6773544, essv6679274
SamplesSSM008, SSM013, SSM018, SSM029, SSM026, SSM031, SSM086, SSM033, SSM066, SSM020, SSM015, SSM037, SSM022, SSM070
Known GenesRPRD2
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)esv2717773
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