A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735226



Internal ID9969556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138718503..138718921hg38UCSC Ensembl
Outerchr7:138403248..138403666hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977039, essv6890844, essv6964173, essv6927130, essv6957610
SamplesSSM026, SSM019, SSM001, SSM004, SSM012
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)esv2735226
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer