A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615239



Internal ID6655438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140567404..140645414hg38UCSC Ensembl
Innerchr7:140567554..140645264hg38UCSC Ensembl
Outerchr7:140567254..140645564hg38UCSC Ensembl
chr7:140267204..140345214hg19UCSC Ensembl
Innerchr7:140267354..140345064hg19UCSC Ensembl
Outerchr7:140267054..140345364hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3878011
hg1978011
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12984822, essv12984823, essv12984821
SamplesHG03124, HG03199, NA19835
Known GenesDENND2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615239
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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