A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735448



Internal ID9969778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:152403739..152403878hg38UCSC Ensembl
Outerchr7:152100824..152100963hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6878905, essv6957654
SamplesSSM093, SSM026
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)esv2735448
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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