A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12786796



Internal ID2788612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:56049407..56329524hg38UCSC Ensembl
chr7:56117100..56397217hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38280118
hg19280118
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613259
Supporting Variants
SamplesNA12828
Known GenesCCT6A, CHCHD2, NUPR1L, PHKG1, PSPH, SNORA15, SUMF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12786796
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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