A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6881613



Internal ID9930248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:55673527..56422115hg38UCSC Ensembl
Outerchr7:55741220..56489808hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38748589
hg19748589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734447
Supporting Variants
SamplesSSM094
Known GenesCCT6A, CHCHD2, FKBP9L, GBAS, MRPS17, NUPR1L, PHKG1, PSPH, SEPT14, SNORA15, SUMF2, ZNF713
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)essv6881613
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