A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6957069



Internal ID10065733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73363683..73363734hg38UCSC Ensembl
Outerchr6:74073406..74073457hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732292, esv2732291
Supporting Variants
SamplesSSM026
Known GenesKHDC3L
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)essv6957069
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