A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12671314



Internal ID4105412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4229389..4320877hg38UCSC Ensembl
chr7:4269021..4360508hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3891489
hg1991488
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611909
Supporting Variants
SamplesHG03729
Known GenesSDK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12671314
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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