A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6795586



Internal ID9852496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:104833920..104834811hg38UCSC Ensembl
Outerchr9:107596201..107597092hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38892
hg19892
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738878
Supporting Variants
SamplesSSM071
Known GenesABCA1
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)essv6795586
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