A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6743778



Internal ID9806606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:15229506..15230086hg38UCSC Ensembl
Outerchr10:15271505..15272085hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38581
hg19581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733528
Supporting Variants
SamplesSSM053
Known GenesFAM171A1
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)essv6743778
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