A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735225



Internal ID9969555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138718274..138718365hg38UCSC Ensembl
Outerchr7:138403019..138403110hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855767
SamplesSSM087
Known GenesATP6V0A4
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)esv2735225
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