A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6845230



Internal ID9897504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128603281..128603818hg38UCSC Ensembl
Outerchr7:128243335..128243872hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38538
hg19538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735137, esv2735141
Supporting Variants
SamplesSSM085
Known Genes
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)essv6845230
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