A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6881725



Internal ID9930349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:152292477..152376357hg38UCSC Ensembl
Outerchr7:151989562..152073442hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3883881
hg1983881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735444
Supporting Variants
SamplesSSM094
Known GenesKMT2C
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)essv6881725
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