A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12756628



Internal ID3527600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44542535..44548436hg38UCSC Ensembl
chr7:44582134..44588035hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg385902
hg195902
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613012
Supporting Variants
SamplesHG03121
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12756628
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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