A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12669946



Internal ID5115259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:3583878..3682421hg38UCSC Ensembl
chr7:3623510..3722053hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3898544
hg1998544
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611894
Supporting Variants
SamplesNA18560
Known GenesSDK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12669946
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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