A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6793317



Internal ID10200010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:36958534..36958719hg38UCSC Ensembl
Outerchr1:37424135..37424320hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747041, esv2747063, esv2747107, esv2747018, esv2747085
Supporting Variants
SamplesSSM071
Known GenesGRIK3
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)essv6793317
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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