A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6727501



Internal ID10138231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:146711817..146712028hg38UCSC Ensembl
Outerchr7:146408909..146409120hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735300
Supporting Variants
SamplesSSM046
Known GenesCNTNAP2
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)essv6727501
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