A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12992398



Internal ID2270891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143846505..143863500hg38UCSC Ensembl
chr7:143543598..143560593hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3816996
hg1916996
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615308
Supporting Variants
SamplesHG02028
Known GenesFAM115A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12992398
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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