A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6943837



Internal ID9705727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:139057545..139057830hg38UCSC Ensembl
Outerchr7:138742291..138742576hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735212, esv2735229
Supporting Variants
SamplesSSM023
Known GenesZC3HAV1
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)essv6943837
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