A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12881983



Internal ID2883799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:89222639..89307122hg38UCSC Ensembl
chr7:88851953..88936436hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3884484
hg1984484
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614071
Supporting Variants
SamplesNA19756
Known GenesZNF804B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12881983
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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